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_206933.2(USH2A):c.15562A>G (p.Ser5188Gly)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA143409

48468 (ClinVar)

Gene: USH2A

Condition: Usher syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6ea1fef2-f5b3-4739-8738-c6bf29fea20a

Approved on: 2018-09-17

Published on: 2019-07-17

HGVS expressions

NM_206933.2:c.15562A>G

NM_206933.2(USH2A):c.15562A>G (p.Ser5188Gly)

NC_000001.11:g.215625828T>C

CM000663.2:g.215625828T>C

NC_000001.10:g.215799170T>C

CM000663.1:g.215799170T>C

NC_000001.9:g.213865793T>C

NG_009497.1:g.802569A>G

NG_009497.2:g.802621A>G

ENST00000307340.8:c.15562A>G

ENST00000674083.1:c.15634A>G

ENST00000307340.7:c.15562A>G

NM_206933.3:c.15562A>G

NM_206933.4:c.15562A>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 of the p.Ser5188Gly variant in the USH2A gene is 6.8% (2200/30782) of South Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), 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).

BA1

FAF calculated from gnomAD data is 0.068 (2200/30782) South Asian chromosomes, including 90 homozygotes

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.