Is MFAP5 p.Asp32= (c.96C>T) pathogenic?

MFAP5 p.Asp32= (c.96C>T) is classified Likely benign in MFAP5 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-07-11). Very rare (popmax 0.00167%, amr); Associated with Cardiovascular phenotype.

What condition is associated with MFAP5 p.Asp32= (c.96C>T)?

MFAP5 p.Asp32= (c.96C>T) is associated with Cardiovascular phenotype (ClinVar).

How common is MFAP5 p.Asp32= (c.96C>T) in the general population?

MFAP5 p.Asp32= (c.96C>T) is very rare (popmax 0.00167%, amr) (gnomAD).

MFAP5 p.Asp32=

c.96C>T · rs778394071 · VCV1767879

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00167%, amr)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.122	moderately benign-leaning
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>T here scores Δ0.85 · evaluated, not missing
Constraint at this position
Conservation	phyloP 0.45	GERP -3, phastCons 0.65
Overall
CADD	7.511	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00167% Admixed American · 1/59,976 alleles

Overall 0.000186% 3/1,610,276 alleles · very rare exomes 3/1,458,000 · genomes 0/152,276 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00167%	59,976
South Asian	0.0011%	91,022
European (non-Finnish)	8.49e-05%	1,178,441

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: MFAP5
Protein: p.Asp32=
Coding: c.96C>T
MANE Select: NM_003480
dbSNP: rs778394071
Type: single nucleotide variant
Location: chr12:8655829 (GRCh38)
Gene constraint: LOEUF 0.975 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 65.79

Full MFAP5 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

Similar variants

MFAP5 c.140-3C>A Uncertain significance ★★ same condition
MFAP5 c.335+4A>G Uncertain significance ★★ same condition
MFAP5 c.336-3C>T Uncertain significance ★★ same condition
MFAP5 p.Arg115His Uncertain significance ★★ same condition
MFAP5 p.Arg126His Uncertain significance ★★ same condition
MFAP5 p.Arg30Gln Uncertain significance ★★ ⚠ same condition
MFAP5 p.Arg93Ser Uncertain significance ★★ ⚠ same condition
MFAP5 p.Arg99Trp Uncertain significance ★★ ⚠ same condition

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/mfap5-p-asp32 (accessed [today's date]).

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