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.9998G>A (p.Arg3333Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA177281

164570 (ClinVar)

Gene: MYO15A

Condition: nonsyndromic genetic deafness

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 08d771f4-66d7-4902-9073-ef9215c72dde

Approved on: 2021-07-22

Published on: 2022-05-13

HGVS expressions

NM_016239.4:c.9998G>A

NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln)

NC_000017.11:g.18167639G>A

CM000679.2:g.18167639G>A

NC_000017.10:g.18070953G>A

CM000679.1:g.18070953G>A

NC_000017.9:g.18011678G>A

NG_011634.1:g.63934G>A

NG_011634.2:g.63934G>A

ENST00000642418.1:n.2262G>A

ENST00000643693.1:n.1800G>A

ENST00000644795.1:c.1790G>A

ENST00000646782.1:n.2732G>A

ENST00000647165.2:c.9998G>A

ENST00000651214.1:n.2429G>A

ENST00000205890.9:c.9998G>A

ENST00000418233.7:c.1790G>A

ENST00000433411.7:n.1448G>A

ENST00000445289.6:n.767G>A

ENST00000578575.1:n.400G>A

ENST00000579848.6:n.502+3801G>A

ENST00000615845.4:c.9998G>A

NM_016239.3:c.9998G>A

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

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 41/10294) of the c.9998G>A (p.Arg3333Gln) variant in the MYO15A gene is 0.302% for Ashkenazi Jewish chromosomes by gnomAD, which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BS1.

BS1

The filtering allele frequency (the lower threshold of the 95% CI of 41/10294) of the c.9998G>A (p.Arg3333Gln) variant in the MYO15A gene is 0.302% for Ashkenazi Jewish chromosomes by gnomAD.

Curation History

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