Is OMG p.Ser370= (c.1110A>C) pathogenic?

OMG p.Ser370= (c.1110A>C) is classified Benign/Likely benign in OMG (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-04-01). Rare (popmax 0.921%, afr).

How common is OMG p.Ser370= (c.1110A>C) in the general population?

OMG p.Ser370= (c.1110A>C) is rare (popmax 0.921%, afr) (gnomAD).

OMG p.Ser370=

c.1110A>C · rs145223469 · VCV736429

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

rare (popmax 0.921%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 0.086	GERP -1.2, phastCons 0.97
Overall
CADD	5.912	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.921% African / African-American · 691/75,034 alleles

Filtering AF 0.864% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.841%

Overall 0.0515% 831/1,614,106 alleles · rare exomes 398/1,461,824 · genomes 433/152,282 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.921%	109
Admixed American	0.135%	741
Remaining individualsnot grpmax-eligible	0.088%	1,137
Middle Eastern	0.0165%	6,062
European (non-Finnish)	0.000254%	393,331

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: OMG
Protein: p.Ser370=
Coding: c.1110A>C
MANE Select: NM_002544
dbSNP: rs145223469
Type: single nucleotide variant
Location: chr17:31295222 (GRCh38)

Full OMG 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/omg-p-ser370 (accessed [today's date]).

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