Is FANCC p.Pro235= (c.705C>T) pathogenic?

FANCC p.Pro235= (c.705C>T) is classified Conflicting classifications of pathogenicity in FANCC (ClinVar, Conflicting submitters, 16 submitters; last evaluated 2026-02-01). Rare (popmax 0.108%, nfe); Associated with hereditary neoplastic syndrome.

What condition is associated with FANCC p.Pro235= (c.705C>T)?

FANCC p.Pro235= (c.705C>T) is associated with hereditary neoplastic syndrome, breast cancer, Fanconi anemia complementation group C (ClinVar).

How common is FANCC p.Pro235= (c.705C>T) in the general population?

FANCC p.Pro235= (c.705C>T) is rare (popmax 0.108%, nfe) (gnomAD).

FANCC p.Pro235=

c.705C>T · rs141828876 · VCV137276

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 16 submitters

gnomAD v4.1

Rare

rare (popmax 0.108%, nfe)

Conditions

hereditary neoplastic syndrome

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 -0.56	GERP -5.6
Overall
CADD	1.071	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.108% European (non-Finnish) · 1,276/1,179,940 alleles

Filtering AF 0.103% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.101%

Overall 0.0815% 1,316/1,613,924 alleles · rare exomes 1,251/1,461,634 · genomes 65/152,290 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.108%	925
Remaining individualsnot grpmax-eligible	0.0384%	2,604
African / African-American	0.0147%	6,822
Admixed American	0.005%	20,007
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,602
Finnishnot grpmax-eligible	0.00156%	63,904

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: FANCC
Protein: p.Pro235=
Coding: c.705C>T
MANE Select: NM_000136
dbSNP: rs141828876
Type: single nucleotide variant
Location: chr9:95135484 (GRCh38)

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

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: breast cancer Fanconi anemia complementation group C Fanconi anemia

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/fancc-p-pro235 (accessed [today's date]).

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