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]

Variant: NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA136998

45753 (ClinVar)

Gene: MYO15A

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 068fa8a8-3311-4a6b-9a51-fb53e2168f9e

Approved on: 2021-06-16

Published on: 2022-05-13

HGVS expressions

NM_016239.4:c.5929T>C

NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)

NC_000017.11:g.18143584T>C

CM000679.2:g.18143584T>C

NC_000017.10:g.18046898T>C

CM000679.1:g.18046898T>C

NC_000017.9:g.17987623T>C

NG_011634.1:g.39879T>C

NG_011634.2:g.39879T>C

ENST00000647165.2:c.5929T>C

ENST00000205890.9:c.5929T>C

ENST00000615845.4:c.5929T>C

NM_016239.3:c.5929T>C

Benign

BA1

BP4

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 15730/17934) of the p.Cys1977Arg variant in the MYO15A gene is 86.6% for African chromosomes (including 6913 homozygous observations) by gnomAD v2.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BA1.

BA1

The p.Cys1977Arg variant in MYO15A is present in 15730/17934 African alleles in gnomAD v2.1. The lower bound of the 95% confidence interval is 86.6%. There are 6913 homozygous observations.

BP4

The REVEL score is 0.264 which is in between the benign and pathogenic cutoffs, so no codes are met.

Curation History

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