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.701A>G (p.Gln234Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA182505

178532 (ClinVar)

Gene: TECTA

Condition: nonsyndromic genetic deafness

Link to MONDO

UUID: af708230-b36c-499d-911b-dea7837335d0

Approved on: 2018-09-28

Published on: 2019-07-17

HGVS expressions

NM_005422.2:c.701A>G

NM_005422.2(TECTA):c.701A>G (p.Gln234Arg)

NM_005422.2:n.701A>G

ENST00000264037.2:n.701A>G

ENST00000392793.5:c.701A>G

NC_000011.10:g.121113629A>G

CM000673.2:g.121113629A>G

NC_000011.9:g.120984338A>G

CM000673.1:g.120984338A>G

NC_000011.8:g.120489548A>G

NG_011633.1:g.15964A>G

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

BP4 BP3 BP2 PVS1 PP3 PM4 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 filtering allele frequency of the c.701A>G (p.Gln234Arg) variant in the TECTA gene is 0.37% (104/23994) 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 likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1).

BS1

Filtering AF = 0.003413 (African) in ExAc

BP4

REVEL = 0.186

BP3

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

BP2

Reported in Sloan-Heggen 2016 in a patient with childhood-onset mild-moderate hearing loss who also had the p.Arg1033Trp variant in TECTA. Variants were not reported to be confirmed in trans. The p.Arg1033Trp variant is present in 81/24020 (0.0033) African chromosomes in gnomAD.

PVS1

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

PP3

REVEL = 0.186

PM4

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

PM2

Filtering AF = 0.003413 (African) in ExAc

Curation History

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