Is RASA1 p.Ser665fs (c.1995_1999del) pathogenic?

RASA1 p.Ser665fs (c.19951999del) is classified Pathogenic in RASA1 (ClinVar, No assertion criteria, 1 submitter). No gnomAD frequency available for this variant; Associated with capillary malformation-arteriovenous malformation 1.

What condition is associated with RASA1 p.Ser665fs (c.1995_1999del)?

RASA1 p.Ser665fs (c.1995_1999del) is associated with capillary malformation-arteriovenous malformation 1 (ClinVar).

How common is RASA1 p.Ser665fs (c.1995_1999del) in the general population?

RASA1 p.Ser665fs (c.1995_1999del) is no gnomAD frequency available for this variant (gnomAD).

How is Parkes Weber syndrome inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

RASA1 p.Ser665fs

c.1995_1999del · rs2112487030 · VCV1684041

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

capillary malformation-arteriovenous malformation 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 11	GERP 2.8, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: RASA1
Protein: p.Ser665fs
Coding: c.1995_1999del
MANE Select: NM_001239 · reported on NM_002890
dbSNP: rs2112487030
Type: Deletion
Location: chr5:87374896 (GRCh38)

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

Disease context

capillary malformation-arteriovenous malformation 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Parkes Weber syndrome (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Infancy, Neonatal

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-ser665fs (accessed [today's date]).

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