Variant Detail

Variant Information
ID
DPV: 6931
Chromosome
11
Gene
HGVS (GRCh37/hg19)
NC_000011.9:g.76868004C>T
HGVS (GRCh38/hg38)
NC_000011.10:g.77156958C>T
HGVS (RNA)
NM_000260.3:c.689C>T
HGVS (Protein)
NP_000251.3:p.A230V
dbSNP
-
ClinGen Allele Registry
CA278740
Allele Frequency
Individual Information

ID
DPVS:7452.1
Clinical Significance
Pathogenic
Date Last Evaluated
2019-03-28
Clinical Significance Citation
Kaneko, Y. The first sporadic case of DFNA11 identified by next-generation sequencing. 2017 Int J Pediatr Otorhinolaryngol. 2017 Sep;100:183-186. doi: 10.1016/j.ijporl.2017.07.007. Epub 2017 Jul 9. PMID:28802369

Transcript
-
Disease

Phenotype
-
Zygosity
single heterozygote
Allele Origin
de novo
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
11	76868004	NC_000011.9:g.76868004C>T	C	T	.	.	CLNALLELEID=178258;CLNDN=Bilateral_sensorineural_hearing_impairment|Deafness,_autosomal_dominant_11|not_specified|Rare_genetic_deafness;CLNDISDB=Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MedGen:CN169374|MedGen:CN826980,Orphanet:ORPHA96210;CLNSIG=Pathogenic/Likely_pathogenic;CLNHGVS=NC_000011.9:g.76868004C>T;GENEINFO=7606:4647;DPVID=6931;DPVSIG=Pathogenic;DPVDSDBID=OMIM:601317;DPVDBN=Deafness\x2c_autosomal_dominant\x2c_11;DPVHGVS=NC_000011.9:g.76868004C>T	.
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-7hwr7hbk>
##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
11	77156958	NC_000011.9:g.76868004C>T	C	T	.	.	dbSNP_RSID=rs797044512;CLNALLELEID=178258;CLNDN=Bilateral_sensorineural_hearing_impairment|Deafness,_autosomal_dominant_11|not_specified|Rare_genetic_deafness;CLNDISDB=Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MedGen:CN169374|MedGen:CN826980,Orphanet:ORPHA96210;CLNSIG=Pathogenic/Likely_pathogenic;CLNHGVS=NC_000011.10:g.77156958C>T;GENEINFO=7606:4647;DPVID=6931;DPVSIG=Pathogenic;DPVDSDBID=OMIM:601317;DPVDBN=Deafness\x2c_autosomal_dominant\x2c_11;DPVHGVS=NC_000011.10:g.77156958C>T	.