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.1436C>T (p.Pro479Leu)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA182711

178638 (ClinVar)

Gene: TECTA

Condition: nonsyndromic genetic deafness

Link to MONDO

UUID: 34755092-11b9-490e-b4c1-2e5fc4db8edd

Approved on: 2018-09-17

Published on: 2019-07-17

HGVS expressions

NM_005422.2:c.1436C>T

NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu)

NM_005422.2:n.1436C>T

ENST00000264037.2:n.1436C>T

ENST00000392793.5:c.1436C>T

NC_000011.10:g.121125534C>T

CM000673.2:g.121125534C>T

NC_000011.9:g.120996243C>T

CM000673.1:g.120996243C>T

NC_000011.8:g.120501453C>T

NG_011633.1:g.27869C>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 c.1436C>T (p.Pro479Leu) variant in the TECTA gene is 0.63% (219/30782) 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

The filtering allele frequency in ExAC is 0.5875% 114/16512 South Asian alleles which meets the HL EP's BA1 cutoff for AD which is 0.1%

Curation History

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