Variant Detail

Variant Information
ID
DPV: 8541
Chromosome
15
Gene
HGVS (GRCh37/hg19)
NC_000015.9:g.48797303G>A
HGVS (GRCh38/hg38)
NC_000015.10:g.48505106G>A
HGVS (RNA)
NM_000138.4:c.1879C>T
HGVS (Protein)
NP_000129.3:p.R627C
dbSNP
-
ClinGen Allele Registry
CA012647
Allele Frequency
Individual Information

ID
DPVS:8746.1
Clinical Significance
Pathogenic
Date Last Evaluated
2019-03-29
Clinical Significance Citation
Takeda, N. Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. 2018 Circ Genom Precis Med. 2018 Jun;11(6):e002058. doi: 10.1161/CIRCGEN.117.002058. PMID:29848614
Stheneur, C. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 2009 Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. PMID:19293843

Transcript
-
Disease

Phenotype
-
Zygosity
single heterozygote
Allele Origin
unknown
Affected Status
yes
Sample Type
  • DNA
Analysis Type
  • SEQuencing
Collection Method
literature only
Compound heterozygous variant(s)
Data Submitter
Comment
-

ClinVar
Model Animals
VCF
VCF (GRCh37/hg19) 
											##fileformat=VCFv4.0
##reference=GRCh37
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=EXAC_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ExAC r1)">
##INFO=<ID=EXAC_FILTER,Number=1,Type=String,Description="calculated by self of overlapping values in field FILTER (from ExAC r1)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=HGVD_AAF,Number=A,Type=Float,Description="Alternative Allele Frequency(s) NA/(NR+NAtotal) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_AC,Number=A,Type=Integer,Description="number(s) of alternative allele(s) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_NR,Number=1,Type=Integer,Description="number of reference allele (from HGVD/DBexome20170802)">
##INFO=<ID=TOMMO_4_7K_AC,Number=A,Type=Integer,Description="Allele count in genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AF,Number=A,Type=Float,Description="Allele frequency, for each ALT allele, in the same order as listed  (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
15	48797303	NC_000015.9:g.48797303G>A	G	A	.	.	CLNALLELEID=175988;CLNDN=Acromicric_dysplasia|Ectopia_lentis,_isolated,_autosomal_dominant|Marfan_syndrome|Stiff_skin_syndrome|MASS_syndrome|Weill-Marchesani_syndrome_2|Geleophysic_dysplasia_2|Marfan_lipodystrophy_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:ORPHA91387;CLNSIG=Pathogenic;CLNHGVS=NC_000015.9:g.48797303G>A;dbSNP_RSID=rs1180134903;GENEINFO=3603:2200;DPVID=8541;DPVSIG=Pathogenic;DPVDSDBID=OMIM:154700;DPVDBN=Marfan_syndrome;DPVHGVS=NC_000015.9:g.48797303G>A	.
VCF (GRCh38/hg38) 
											##fileformat=VCFv4.0
##reference=GRCh38
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##originalFile=</tmp/crossmap-input-nmaplxgz>
##targetRefGenome=</usr/lib64/python2.7/site-packages/transvar/transvar.download/hg38.fa>
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
15	48505106	NC_000015.9:g.48797303G>A	G	A	.	.	dbSNP_RSID=rs727503057;CLNALLELEID=175988;CLNDN=Acromicric_dysplasia|Ectopia_lentis,_isolated,_autosomal_dominant|Marfan_syndrome|Stiff_skin_syndrome|MASS_syndrome|Weill-Marchesani_syndrome_2|Geleophysic_dysplasia_2|Marfan_lipodystrophy_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection;CLNDISDB=MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:ORPHA91387;CLNSIG=Pathogenic;CLNHGVS=NC_000015.10:g.48505106G>A;GENEINFO=3603:2200;DPVID=8541;DPVSIG=Pathogenic;DPVDSDBID=OMIM:154700;DPVDBN=Marfan_syndrome;DPVHGVS=NC_000015.10:g.48505106G>A	.