Is TECTA p.Val1911= (c.5733T>G) pathogenic?

TECTA p.Val1911= (c.5733T>G) is classified Benign/Likely benign in TECTA (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-01-27). Common (popmax 10.3%, afr) — too common for a highly-penetrant pathogenic allele; Associated with autosomal recessive nonsyndromic hearing loss 21.

What condition is associated with TECTA p.Val1911= (c.5733T>G)?

TECTA p.Val1911= (c.5733T>G) is associated with autosomal recessive nonsyndromic hearing loss 21, autosomal dominant nonsyndromic hearing loss 12 (ClinVar).

TECTA p.Val1911=

Q: How common is TECTA p.Val1911= (c.5733T>G) in the general population?

TECTA p.Val1911= (c.5733T>G) is common (popmax 10.3%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.5733T>G · rs516678 · VCV45340

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

gnomAD v4.1

Common

common (popmax 10.3%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

autosomal recessive nonsyndromic hearing loss 21

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -20	GERP -3.5
Overall
CADD	0.031	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 10.3% African / African-American · 7,718/75,056 alleles

Filtering AF 10.1% ClinGen BA1/BS1 input FAF95, joint · FAF99 10%

Overall 0.568% 9,171/1,614,236 alleles · common exomes 4,629/1,461,882 · genomes 4,542/152,354 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	10.3%	10
Admixed American	0.944%	106
Middle Eastern	0.792%	126
Remaining individualsnot grpmax-eligible	0.781%	128
European (non-Finnish)	0.0278%	3,598
South Asian	0.0198%	5,060
Finnishnot grpmax-eligible	0.00468%	21,349
East Asian	0.00223%	44,892

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: TECTA
Protein: p.Val1911=
Coding: c.5733T>G
MANE Select: NM_005422
dbSNP: rs516678
Type: single nucleotide variant
Location: chr11:121168200 (GRCh38)
Gene constraint: LOEUF 0.661 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.64
Residue 1911: the zp domain

Full TECTA gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal recessive nonsyndromic hearing loss 21 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: autosomal dominant nonsyndromic hearing loss 12

Similar variants

TECTA p.Arg371Gly Benign ★★★ same condition
TECTA c.2367+2T>C Likely pathogenic ★★ same condition
TECTA c.4690-1G>A Pathogenic/Likely pathogenic ★★ same condition
TECTA p.Arg1174Ter Pathogenic ★★ same condition
TECTA p.Ala567Thr Uncertain significance ★★ ⚠ same condition
TECTA p.Arg284Cys Uncertain significance ★★ ⚠ same condition
TECTA p.Arg474Cys Uncertain significance ★★ ⚠ same condition
TECTA p.Cys1072= Uncertain significance ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/tecta-p-val1911 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown