Is DCC p.Ala713fs (c.2134_2135dup) pathogenic?

DCC p.Ala713fs (c.21342135dup) is classified Pathogenic in DCC (ClinVar, Single submitter, 1 submitter; last evaluated 2020-03-20). Absent from gnomAD; Associated with Inborn genetic diseases.

What condition is associated with DCC p.Ala713fs (c.2134_2135dup)?

DCC p.Ala713fs (c.2134_2135dup) is associated with Inborn genetic diseases (ClinVar).

How common is DCC p.Ala713fs (c.2134_2135dup) in the general population?

DCC p.Ala713fs (c.2134_2135dup) is absent from gnomAD (gnomAD).

DCC p.Ala713fs

c.2134_2135dup · rs2057418362 · VCV985049

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 14 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.12	GERP -5.1, phastCons 0.61

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: DCC
Protein: p.Ala713fs
Coding: c.2134_2135dup
MANE Select: NM_005215
dbSNP: rs2057418362
Type: Duplication
Location: chr18:53322126 (GRCh38)
Gene constraint: LOEUF 0.414 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.60 · 9 PDB
Residue 713: the fibronectin type-iii 3 domain; a UniProt-annotated variant site (in mrmv1; likely pathogenic); a β-strand

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DCC p.Arg1021Ter Pathogenic ★★ same condition
DCC p.Arg597Gln Uncertain significance ★★ ⚠ same condition
DCC p.Gly84Arg Uncertain significance ★★ ⚠ same condition
DCC p.Ile1080Val Uncertain significance ★★ ⚠ same condition
DCC p.Gln486Leu Benign ★★ ⚠ same condition
DCC p.Arg215Ter Pathogenic ★ same condition
DCC p.Leu786fs Pathogenic ★ same condition
DCC p.Pro847fs 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/dcc-p-ala713fs (accessed [today's date]).

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