Is MSTN p.Ser102= (c.306C>T) pathogenic?

MSTN p.Ser102= (c.306C>T) is classified Benign/Likely benign in MSTN (ClinVar, Multiple submitters, 4 submitters; last evaluated 2024-10-09). Low-frequency (popmax 1.72%, afr); Associated with myostatin-related muscle hypertrophy.

What condition is associated with MSTN p.Ser102= (c.306C>T)?

MSTN p.Ser102= (c.306C>T) is associated with myostatin-related muscle hypertrophy (ClinVar).

How common is MSTN p.Ser102= (c.306C>T) in the general population?

MSTN p.Ser102= (c.306C>T) is low-frequency (popmax 1.72%, afr) (gnomAD).

MSTN p.Ser102=

c.306C>T · rs34191156 · VCV333241

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.72%, afr)

Conditions

myostatin-related muscle hypertrophy

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 -1	GERP -5.2
Overall
CADD	3.217	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.72% African / African-American · 1,291/74,966 alleles

Filtering AF 1.64% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.61%

Overall 0.0911% 1,470/1,613,158 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.72%	58
Middle Eastern	0.132%	757
Remaining individualsnot grpmax-eligible	0.122%	822
Admixed American	0.0818%	1,222
South Asian	0.00769%	13,008
European (non-Finnish)	0.00331%	30,240

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: MSTN
Protein: p.Ser102=
Coding: c.306C>T
MANE Select: NM_001042519 · reported on NM_005259
dbSNP: rs34191156
Type: single nucleotide variant
Location: chr2:190062291 (GRCh38)

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

Disease context

myostatin-related muscle hypertrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/mstn-p-ser102 (accessed [today's date]).

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