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NM_004086.3(COCH):c.841G>A (p.Asp281Asn) AND Nonsyndromic genetic hearing loss

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 25, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000787992.1

Allele description [Variation Report for NM_004086.3(COCH):c.841G>A (p.Asp281Asn)]

NM_004086.3(COCH):c.841G>A (p.Asp281Asn)

Genes:
COCH:cochlin [Gene - OMIM - HGNC]
LOC100506071:uncharacterized LOC100506071 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_004086.3(COCH):c.841G>A (p.Asp281Asn)
Other names:
NM_004086.2(COCH):c.841G>A
HGVS:
  • NC_000014.9:g.30885501G>A
  • NG_008211.2:g.15967G>A
  • NM_001135058.2:c.841G>A
  • NM_001347720.2:c.1036G>A
  • NM_004086.3:c.841G>AMANE SELECT
  • NP_001128530.1:p.Asp281Asn
  • NP_001334649.1:p.Asp346Asn
  • NP_004077.1:p.Asp281Asn
  • NC_000014.8:g.31354707G>A
  • NM_004086.2:c.841G>A
  • NR_038356.1:n.1364C>T
  • O43405:p.Asp281Asn
Protein change:
D281N
Links:
UniProtKB: O43405#VAR_022260; dbSNP: rs28362775
NCBI 1000 Genomes Browser:
rs28362775
Molecular consequence:
  • NM_001135058.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347720.2:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004086.3:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038356.1:n.1364C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Nonsyndromic genetic hearing loss
Synonyms:
Nonsyndromic hearing loss and deafness; Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Identifiers:
MONDO: MONDO:0019497; MedGen: C5680182; Orphanet: 87884

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000927020ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(ClinGen HL ACMG Specifications v1)		Benign
(Feb 25, 2019) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV000927020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.841G>A (p.Asp281Asn) variant in the COCH gene is 0.5% for African chromosomes by gnomAD (145/24032 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal dominant hearing loss variants (BA1).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024