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_206933.3(USH2A):c.9921T>G (p.Cys3307Trp)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA16044155

226441 (ClinVar)

Gene: USH2A

Condition: Usher syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f41fc1cd-9f60-4c2d-ae7d-a2b577765994

Approved on: 2019-10-23

Published on: 2019-10-23

HGVS expressions

NM_206933.3:c.9921T>G

NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp)

NC_000001.11:g.215798944A>C

CM000663.2:g.215798944A>C

NC_000001.10:g.215972286A>C

CM000663.1:g.215972286A>C

NC_000001.9:g.214038909A>C

NG_009497.1:g.629453T>G

NG_009497.2:g.629505T>G

ENST00000307340.8:c.9921T>G

ENST00000674083.1:c.9921T>G

ENST00000307340.7:c.9921T>G

NM_206933.2:c.9921T>G

NM_206933.4:c.9921T>G

Uncertain Significance

PM2

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 c.9921T>G (p.Cys3307Trp) variant in USH2A is absent from gnomAD (PM2). This variant was observed in 1 patient with Usher Syndrome, without a second variant in USH2A (PMID: 21569298). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2.

PM2

Variant is absent from gnomAD

Curation History

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