Is OVCA2 p.Ala2= (c.6C>T) pathogenic?

OVCA2 p.Ala2= (c.6C>T) is classified Likely benign in OVCA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-05-01). Rare (popmax 0.404%, nfe).

How common is OVCA2 p.Ala2= (c.6C>T) in the general population?

OVCA2 p.Ala2= (c.6C>T) is rare (popmax 0.404%, nfe) (gnomAD).

OVCA2 p.Ala2=

c.6C>T · rs201424118 · VCV3067207

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.404%, nfe)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -10	GERP -4.6
Overall
CADD	0.279	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.404% European (non-Finnish) · 4,635/1,145,930 alleles

Filtering AF 0.395% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.391%

Overall 0.35% 5,357/1,529,268 alleles · rare exomes 4,935/1,376,940 · genomes 422/152,328 · joint denominator

Ancestry group	Frequency	1 in
Amishnot grpmax-eligible	1.86%	54
European (non-Finnish)grpmax	0.404%	247
South Asian	0.351%	285
Admixed American	0.273%	367
Remaining individualsnot grpmax-eligible	0.267%	375
Finnishnot grpmax-eligible	0.13%	771
Middle Eastern	0.113%	889
African / African-American	0.0725%	1,380
Ashkenazi Jewishnot grpmax-eligible	0.00726%	13,778
East Asian	0.00244%	41,054

Amish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: OVCA2
Protein: p.Ala2=
Coding: c.6C>T
MANE Select: NM_080822
dbSNP: rs201424118
Type: single nucleotide variant
Location: chr17:2042053 (GRCh38)

Full OVCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/ovca2-p-ala2 (accessed [today's date]).

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