Is F7 p.Asp161= (c.483C>T) pathogenic?

F7 p.Asp161= (c.483C>T) is classified Benign/Likely benign in F7 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-12-31). Low-frequency (popmax 1.01%, eas); Associated with factor VII deficiency.

What condition is associated with F7 p.Asp161= (c.483C>T)?

F7 p.Asp161= (c.483C>T) is associated with factor VII deficiency (ClinVar).

How common is F7 p.Asp161= (c.483C>T) in the general population?

F7 p.Asp161= (c.483C>T) is low-frequency (popmax 1.01%, eas) (gnomAD).

F7 p.Asp161=

c.483C>T · rs6040 · VCV717319

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.01%, eas)

Conditions

factor VII deficiency

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 -6.8	GERP -2.5
Overall
CADD	3.185	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.01% East Asian · 455/44,878 alleles

Filtering AF 0.937% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.906%

Overall 0.0342% 552/1,613,250 alleles · low-frequency

Ancestry group	Frequency	1 in
East Asiangrpmax	1.01%	99
Remaining individualsnot grpmax-eligible	0.0608%	1,645
Middle Eastern	0.0165%	6,062
African / African-American	0.0147%	6,824
South Asian	0.0121%	8,280
Admixed American	0.01%	10,003
European (non-Finnish)	0.00246%	40,690
Finnishnot grpmax-eligible	0.00158%	63,114

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: F7
Protein: p.Asp161=
Coding: c.483C>T
MANE Select: NM_019616
dbSNP: rs6040
Type: single nucleotide variant
Location: chr13:113115778 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 82.64 · 114 PDB
Residue 161: a β-strand; a disulfide bond; the egf-like 2 domain

Full F7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

factor VII deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

F7 p.Asp161Asn Uncertain significance ★★ ⚠ same residue
F7 p.Asp161Glu Uncertain significance ★ same residue
F7 c.364+1G>A Pathogenic/Likely pathogenic ★★ same condition
F7 c.615+1G>T Pathogenic/Likely pathogenic ★★ same condition
F7 c.-30A>C Likely pathogenic ★★ same condition
F7 c.-55C>T Pathogenic/Likely pathogenic ★★ same condition
F7 c.-61T>G Likely pathogenic ★★ same condition
F7 p.Ala282Val Pathogenic/Likely 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/f7-p-asp161 (accessed [today's date]).

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