Variant: NM_004086.2(COCH):c.841G>A (p.Asp281Asn)

CA7143202

226529 (ClinVar)

Gene: COCH

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal dominant inheritance

UUID: f0ea27ae-e6f6-4144-a4b0-c916b38ecd23

HGVS expressions

NM_004086.2:c.841G>A
NM_004086.2(COCH):c.841G>A (p.Asp281Asn)
NC_000014.9:g.30885501G>A
CM000676.2:g.30885501G>A
NC_000014.8:g.31354707G>A
CM000676.1:g.31354707G>A
NC_000014.7:g.30424458G>A
NG_008211.2:g.15967G>A
NM_001135058.1:c.841G>A
NR_038356.1:n.1364C>T
NM_001347720.1:c.1036G>A
NM_004086.3:c.841G>A
ENST00000216361.8:c.841G>A
ENST00000396618.7:c.841G>A
ENST00000460581.6:c.505G>A
ENST00000468826.2:n.492G>A
ENST00000475087.5:c.841G>A
ENST00000555881.5:c.487G>A
ENST00000557065.1:n.623G>A

Benign

• Met criteria codes: BA1

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

Evidence submitted by expert panel

Hearing Loss VCEP

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).

Met criteria codes

• BA1: gnomAD: 0.6% (145/24032) African chromosomes

Approved on: 2019-02-25

Published on: 2019-07-17