Is OCA2 p.Asp91Phe (c.271_272delinsTT) pathogenic?

OCA2 p.Asp91Phe (c.271272delinsTT) is classified Uncertain significance in OCA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-02). No gnomAD frequency available for this variant.

How common is OCA2 p.Asp91Phe (c.271_272delinsTT) in the general population?

OCA2 p.Asp91Phe (c.271_272delinsTT) is no gnomAD frequency available for this variant (gnomAD).

OCA2 p.Asp91Phe

c.271_272delinsTT · rs2141380377 · VCV1519196

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 0.73, phastCons 1
Regional constraint	o/e 0.98	unconstrained · MANE · 326 kb · p 0.41 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: OCA2
Protein: p.Asp91Phe
Coding: c.271_272delinsTT
MANE Select: NM_000275
dbSNP: rs2141380377
Type: Indel
Location: chr15:28032119 (GRCh38)
Gene constraint: LOEUF 0.869 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 73.79
Residue 91: the 'disordered' region

Full OCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

OCA2 p.Asn273_Trp274delinsLysVal Pathogenic/Likely pathogenic ★★ same type
OCA2 c.1842_1842+2delinsAGGA Likely pathogenic ★ same type
OCA2 p.Glu678_Ala680delinsTer Likely pathogenic ★ same type
OCA2 p.Ile672fs Pathogenic ★ same type
OCA2 c.1183-4_1183-3delinsGC Uncertain significance ★ same type
OCA2 c.808-10_808-9delinsTT Uncertain significance ★ same type
OCA2 p.Ala355Val Uncertain significance ★ same type
OCA2 p.Phe744Ile Uncertain significance ★ same type

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/oca2-p-asp91phe (accessed [today's date]).

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