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

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

Likely Benign

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

• Met criteria codes: BS1

Expert Panel

Hearing Loss VCEP

Criteria Specification Information

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

Approved on: 2021-04-08

Published on: 2021-04-08