Is ASNS p.Ser170= (c.510C>T) pathogenic?

ASNS p.Ser170= (c.510C>T) is classified Likely benign in ASNS (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-02-02). Very rare (popmax 0.00401%, afr).

How common is ASNS p.Ser170= (c.510C>T) in the general population?

ASNS p.Ser170= (c.510C>T) is very rare (popmax 0.00401%, afr) (gnomAD).

ASNS p.Ser170=

c.510C>T · rs373164231 · VCV799073

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00401%, afr)

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 2.5	GERP -2.2, phastCons 1
Overall
CADD	8.069	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00401% African / African-American · 3/74,802 alleles

Filtering AF 0.00283% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00252%

Overall 0.00316% 51/1,612,130 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00401%	24,934
European (non-Finnish)	0.00373%	26,796
East Asian	0.00223%	44,868
South Asian	0.0022%	45,458
Finnishnot grpmax-eligible	0.00156%	63,940

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: ASNS
Protein: p.Ser170=
Coding: c.510C>T
dbSNP: rs373164231
Type: single nucleotide variant
Location: chr7:97859376 (GRCh38)

Full ASNS 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/asns-p-ser170 (accessed [today's date]).

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