The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

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

CA143409

48468 (ClinVar)

Gene: USH2A
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
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
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Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

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).
Met criteria codes
BA1
FAF calculated from gnomAD data is 0.068 (2200/30782) South Asian chromosomes, including 90 homozygotes
Curation History
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