Is SERPING1 p.Ser283= (c.849C>T) pathogenic?

SERPING1 p.Ser283= (c.849C>T) is classified Benign/Likely benign in SERPING1 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-02-01). Rare (popmax 0.158%, nfe); Associated with hereditary angioedema type 1.

What condition is associated with SERPING1 p.Ser283= (c.849C>T)?

SERPING1 p.Ser283= (c.849C>T) is associated with hereditary angioedema type 1 (ClinVar).

How common is SERPING1 p.Ser283= (c.849C>T) in the general population?

SERPING1 p.Ser283= (c.849C>T) is rare (popmax 0.158%, nfe) (gnomAD).

How is Hereditary angioedema with C1Inh deficiency inherited?

Typically Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

SERPING1 p.Ser283=

c.849C>T · rs143760635 · VCV305027

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

gnomAD v4.1

Rare

rare (popmax 0.158%, nfe)

Conditions

hereditary angioedema type 1

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 -20	GERP -4.5
Overall
CADD	0.196	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.158% European (non-Finnish) · 1,860/1,180,012 alleles

Filtering AF 0.152% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.149%

Overall 0.124% 2,003/1,614,116 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.158%	634
Remaining individualsnot grpmax-eligible	0.0816%	1,226
Ashkenazi Jewishnot grpmax-eligible	0.0743%	1,346
Finnishnot grpmax-eligible	0.0687%	1,456
African / African-American	0.0173%	5,770
Admixed American	0.00833%	12,003
East Asian	0.00669%	14,957
South Asian	0.00549%	18,216

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: SERPING1
Protein: p.Ser283=
Coding: c.849C>T
MANE Select: NM_000062
dbSNP: rs143760635
Type: single nucleotide variant
Location: chr11:57606173 (GRCh38)
Gene constraint: LOEUF 0.278 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 80.63 · 5 PDB
Residue 283: a disulfide bond

Full SERPING1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary angioedema type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary angioedema with C1Inh deficiency (Orphanet):

Inheritance: Not applicable
Onset: Adult, Elderly

Similar variants

SERPING1 p.Ser283fs Pathogenic ★★ same residue
SERPING1 c.1030-1G>T Pathogenic ★★ same condition
SERPING1 c.51+1G>T Pathogenic ★★ same condition
SERPING1 c.51+3A>C Pathogenic/Likely pathogenic ★★ same condition
SERPING1 c.52-1G>A Pathogenic ★★ same condition
SERPING1 c.550+1G>A Pathogenic ★★ same condition
SERPING1 c.551-1G>C Pathogenic/Likely pathogenic ★★ same condition
SERPING1 c.551-2A>G Pathogenic ★★ 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/serping1-p-ser283 (accessed [today's date]).

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