Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_004086.2(COCH):c.429A>G (p.Pro143=)

CA7143032

227258 (ClinVar)

Gene: COCH

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a9f35732-d723-466d-a748-67465ee0c69d

HGVS expressions

NM_004086.2:c.429A>G

NM_004086.2(COCH):c.429A>G (p.Pro143=)

NC_000014.9:g.30879478A>G

CM000676.2:g.30879478A>G

NC_000014.8:g.31348684A>G

CM000676.1:g.31348684A>G

NC_000014.7:g.30418435A>G

NG_008211.2:g.9944A>G

NM_001135058.1:c.429A>G

NR_038356.1:n.1618-2926T>C

NM_001347720.1:c.624A>G

NM_004086.3:c.429A>G

ENST00000216361.8:c.429A>G

ENST00000396618.7:c.429A>G

ENST00000460581.6:c.93A>G

ENST00000475087.5:c.429A>G

ENST00000553772.5:c.240-974A>G

ENST00000553833.5:n.583A>G

ENST00000555881.5:c.83-974A>G

ENST00000556908.5:c.381A>G

ENST00000557065.1:n.211A>G

Benign

BA1

Evidence Links 0

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hearing Loss VCEP

The filtering allele frequency (the lower threshold of the 95% CI of 44/24026) of the c.429A>G (p.Pro143=) variant in the COCH gene is 0.14% for African chromosomes by gnomAD, 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).

BA1

filtering allele frequency 0.14% (44/24026) of African chromosomes in gnomad, over BA1 cutoff of 0.1% for AD hearing loss

Approved on: 2019-03-25

Published on: 2019-07-17

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