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_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)

CA6327326

287165 (ClinVar)

Gene: TECTA
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 3ceeb535-2184-4cff-8232-0aca43c9220e
Approved on: 2021-04-08
Published on: 2021-04-08

HGVS expressions

NM_005422.2:c.4004G>A
NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)
NC_000011.10:g.121146015G>A
CM000673.2:g.121146015G>A
NC_000011.9:g.121016724G>A
CM000673.1:g.121016724G>A
NC_000011.8:g.120521934G>A
NG_011633.1:g.48350G>A
ENST00000264037.2:n.4004G>A
ENST00000392793.5:c.4004G>A
NM_005422.2:n.4004G>A
NM_001378761.1:c.4961G>A
NM_005422.4:c.4004G>A
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Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The c.4004G>A (p.Gly1335Glu) variant in TECTA gene has been detected in heterozygosity in 1 individual with sloping moderately-severe sensorineural hearing loss but no variant on the other allele was identified (Partners LMM internal data). The filtering allele frequency of the variant in the TECTA gene is 0.358% for African chromosomes in gnomAD (89/24844 with 95% CI), which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel (HL EP) for autosomal recessive hearing loss variants (BS1). In summary, the HL EP classified this variant as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BS1.
Met criteria codes
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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