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_005422.2(TECTA):c.1111A>G (p.Arg371Gly)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA136018

45314 (ClinVar)

Gene: TECTA

Condition: nonsyndromic genetic deafness

Link to MONDO

UUID: 35d6c7e2-dfb8-46a4-9f4f-7727ac602098

Approved on: 2018-09-28

Published on: 2019-07-17

HGVS expressions

NM_005422.2:c.1111A>G

NM_005422.2(TECTA):c.1111A>G (p.Arg371Gly)

NM_005422.2:n.1111A>G

ENST00000264037.2:n.1111A>G

ENST00000392793.5:c.1111A>G

NC_000011.10:g.121118626A>G

CM000673.2:g.121118626A>G

NC_000011.9:g.120989335A>G

CM000673.1:g.120989335A>G

NC_000011.8:g.120494545A>G

NG_011633.1:g.20961A>G

Benign

BA1

PP3 BP4

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.Arg317Gly variant in the TECTA gene is 67.5% (16434/24006) 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 dominant and autosomal recessive hearing loss variants (BA1).

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PP3

Was previously scored as met, but we decided that you can only apply BP4 if the score is 0.15 or lower - Andrea 7.31.18

BP4

Was previously scored as met, but we decided that you can only apply BP4 if the score is 0.15 or lower - Andrea 7.31.18

Curation History

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