Is RASA1 p.Glu985= (c.2955G>A) pathogenic?

RASA1 p.Glu985= (c.2955G>A) is classified Likely benign in RASA1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-26). Very rare (popmax 0.00549%, sas); Associated with Cardiovascular phenotype.

What condition is associated with RASA1 p.Glu985= (c.2955G>A)?

RASA1 p.Glu985= (c.2955G>A) is associated with Cardiovascular phenotype, capillary malformation-arteriovenous malformation syndrome (ClinVar).

How common is RASA1 p.Glu985= (c.2955G>A) in the general population?

RASA1 p.Glu985= (c.2955G>A) is very rare (popmax 0.00549%, sas) (gnomAD).

RASA1 p.Glu985=

c.2955G>A · rs776116656 · VCV2561426

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00549%, sas)

Conditions

Cardiovascular phenotype

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 -0.16	GERP -4.4, phastCons 0.038
Overall
CADD	1.674	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00549% South Asian · 5/91,082 alleles

Filtering AF 0.0021% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00136%

Overall 0.000752% 11/1,461,802 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00549%	18,216
East Asian	0.00223%	44,884
European (non-Finnish)	0.000424%	235,993

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: RASA1
Protein: p.Glu985=
Coding: c.2955G>A
MANE Select: NM_001239 · reported on NM_002890
dbSNP: rs776116656
Type: single nucleotide variant
Location: chr5:87389422 (GRCh38)

Full RASA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: capillary malformation-arteriovenous malformation syndrome

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/rasa1-p-glu985 (accessed [today's date]).

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