Is SFTPB p.Ser371= (c.1113C>T) pathogenic?

SFTPB p.Ser371= (c.1113C>T) is classified Likely benign in SFTPB (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-01). No allele count reported in gnomAD v4.1 (AN 1,612,208).

How common is SFTPB p.Ser371= (c.1113C>T) in the general population?

SFTPB p.Ser371= (c.1113C>T) is no allele count reported in gnomAD v4.1 (AN 1,612,208) (gnomAD).

SFTPB p.Ser371=

c.1113C>T · rs370528656 · VCV3027368

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,612,208)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.11	moderately benign-leaning
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.76	GERP -2.5, phastCons 0.99
Overall
CADD	6.31	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,612,208). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: SFTPB
Protein: p.Ser371=
Coding: c.1113C>T
MANE Select: NM_000542
dbSNP: rs370528656
Type: single nucleotide variant
Location: chr2:85661506 (GRCh38)
Gene constraint: LOEUF 0.846 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 73.31 · 9 PDB

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

Similar variants

SFTPB c.195+1G>A Pathogenic/Likely pathogenic ★★ same type
SFTPB c.582+5G>A Uncertain significance ★★ same type
SFTPB c.*922G>A Uncertain significance ★★ same type
SFTPB p.Ala184Pro Uncertain significance ★★ ⚠ same type
SFTPB p.Arg165Gln Uncertain significance ★★ ⚠ same type
SFTPB p.Arg217Gln Uncertain significance ★★ ⚠ same type
SFTPB p.Arg276Gln Uncertain significance ★★ ⚠ same type
SFTPB p.Arg276Trp Uncertain significance ★★ ⚠ same type

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/sftpb-p-ser371 (accessed [today's date]).

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