Is FANCL p.Pro13= (c.39C>T) pathogenic?

FANCL p.Pro13= (c.39C>T) is classified Likely benign in FANCL (ClinVar, Single submitter, 1 submitter; last evaluated 2023-04-25). Very rare (popmax 0.00833%, amr); Associated with Fanconi anemia.

What condition is associated with FANCL p.Pro13= (c.39C>T)?

FANCL p.Pro13= (c.39C>T) is associated with Fanconi anemia (ClinVar).

How common is FANCL p.Pro13= (c.39C>T) in the general population?

FANCL p.Pro13= (c.39C>T) is very rare (popmax 0.00833%, amr) (gnomAD).

How is Hereditary isolated aplastic anemia inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

FANCL p.Pro13=

c.39C>T · rs201708705 · VCV1574896

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00833%, amr)

Conditions

Fanconi anemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.533	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.31	GERP -2.7, phastCons 0.084
Overall
CADD	12.12	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00833% Admixed American · 5/60,008 alleles

Filtering AF 0.00323% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00207%

Overall 0.000496% 8/1,614,122 alleles · very rare exomes 6/1,461,874 · genomes 2/152,248 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00833%	12,002
African / African-American	0.004%	24,981

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: FANCL
Protein: p.Pro13=
Coding: c.39C>T
MANE Select: NM_018062
dbSNP: rs201708705
Type: single nucleotide variant
Location: chr2:58241275 (GRCh38)
Gene constraint: LOEUF 1.444 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 91.36 · 8 PDB

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

Disease context

Fanconi anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary isolated aplastic anemia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Childhood

Similar variants

FANCL p.Pro13Ala Uncertain significance ★ ⚠ same residue
FANCL c.1021-2A>G Likely pathogenic ★★ same condition
FANCL c.156-2A>T Likely pathogenic ★★ same condition
FANCL c.273+1G>A Likely pathogenic ★★ same condition
FANCL c.471+2T>C Likely pathogenic ★★ same condition
FANCL c.472-1G>C Pathogenic/Likely pathogenic ★★ same condition
FANCL c.903+1G>T Pathogenic/Likely pathogenic ★★ same condition
FANCL p.Arg68Ter 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/fancl-p-pro13 (accessed [today's date]).

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