Is MFAP5 p.Val49= (c.147G>C) pathogenic?

MFAP5 p.Val49= (c.147G>C) is classified Likely benign in MFAP5 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-01-24). Absent from gnomAD v4.1; Associated with Cardiovascular phenotype.

What condition is associated with MFAP5 p.Val49= (c.147G>C)?

MFAP5 p.Val49= (c.147G>C) is associated with Cardiovascular phenotype (ClinVar).

How common is MFAP5 p.Val49= (c.147G>C) in the general population?

MFAP5 p.Val49= (c.147G>C) is absent from gnomAD v4.1 (gnomAD).

MFAP5 p.Val49=

c.147G>C · rs2540299528 · VCV1773542

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.046	GERP -3.5, phastCons 0.81
Overall
CADD	7.978	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MFAP5
Protein: p.Val49=
Coding: c.147G>C
MANE Select: NM_003480
dbSNP: rs2540299528
Type: single nucleotide variant
Location: chr12:8655440 (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 p.Val49Ala Uncertain significance ★★ ⚠ same residue
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

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-val49 (accessed [today's date]).

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