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_000441.1(SLC26A4):c.565G>T (p.Ala189Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA132732

43560 (ClinVar)

Gene: SLC26A4

Condition: Pendred syndrome

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: b905ae85-8973-4ed6-b603-52b3b342f2e0

Approved on: 2018-09-28

Published on: 2019-07-17

HGVS expressions

NM_000441.1:c.565G>T

NM_000441.1(SLC26A4):c.565G>T (p.Ala189Ser)

NC_000007.14:g.107674313G>T

CM000669.2:g.107674313G>T

NC_000007.13:g.107314758G>T

CM000669.1:g.107314758G>T

NC_000007.12:g.107101994G>T

NG_008489.1:g.18679G>T

ENST00000265715.7:c.565G>T

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.Ala1898Ser variant in the SLC26A4 gene is 1.2% (324/24040) of African 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 with gnomAD data: 0.01227 (324/24040) African chromosomes, including 3 homozygotes.

Curation History

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