Is BORCS7 p.Gln84Arg (c.251A>G) pathogenic?

BORCS7 p.Gln84Arg (c.251A>G) is classified Uncertain significance in BORCS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-24). AlphaMissense: likely pathogenic (0.6059); Absent from gnomAD v4.1.

How common is BORCS7 p.Gln84Arg (c.251A>G) in the general population?

BORCS7 p.Gln84Arg (c.251A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BORCS7 p.Gln84Arg (c.251A>G)?

AlphaMissense predicts likely pathogenic (score 0.6059) — an in-silico prediction, not a clinical call.

BORCS7 p.Gln84Arg

c.251A>G · VCV3825114

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6059 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.6059	likely pathogenic
REVEL	0.217	benign-leaning
SaProt	LLR -6.02	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 1.8, phastCons 1
Regional constraint	o/e 0.94	unconstrained · MANE · 8,634 bp · p 0.5 · regional, not allelic
Overall
CADD	24.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: BORCS7
Protein: p.Gln84Arg
Coding: c.251A>G
MANE Select: NM_001136200
Type: single nucleotide variant
Location: chr10:102862162 (GRCh38)
Gene constraint: LOEUF 1.484 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.84

Full BORCS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BORCS7 p.Arg44Gln Uncertain significance ★ ⚠ same type
BORCS7 p.Arg44Trp Uncertain significance ★ ⚠ same type
BORCS7 p.Gln10Arg Uncertain significance ★ ⚠ same type
BORCS7 p.Gln88Glu Uncertain significance ★ ⚠ same type
BORCS7 p.Gln98Glu Uncertain significance ★ ⚠ same type
BORCS7 p.Glu8Gln Uncertain significance ★ ⚠ same type
BORCS7 p.Gly5Arg Uncertain significance ★ ⚠ same type
BORCS7 p.His65Tyr 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/borcs7-p-gln84arg (accessed [today's date]).

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