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NM_000136.3(FANCC):c.29dup (p.Cys10fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002433945.2

Allele description [Variation Report for NM_000136.3(FANCC):c.29dup (p.Cys10fs)]

NM_000136.3(FANCC):c.29dup (p.Cys10fs)

Gene:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
HGVS:
  • NC_000009.12:g.95249263dup
  • NG_011707.1:g.73447dup
  • NM_000136.3:c.29dupMANE SELECT
  • NM_001243743.2:c.29dup
  • NM_001243744.2:c.29dup
  • NP_000127.2:p.Cys10fs
  • NP_001230672.1:p.Cys10fs
  • NP_001230673.1:p.Cys10fs
  • LRG_497t1:c.29dup
  • LRG_497:g.73447dup
  • NC_000009.11:g.98011544_98011545insC
  • NC_000009.11:g.98011545dup
  • NM_000136.2:c.29dup
  • NM_000136.2:c.29dupG
Protein change:
C10fs
Links:
dbSNP: rs878853671
NCBI 1000 Genomes Browser:
rs878853671
Molecular consequence:
  • NM_000136.3:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243744.2:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002750747Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 21, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002750747.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.29dupG pathogenic mutation, located in coding exon 1 of the FANCC gene, results from a duplication of G at nucleotide position 29, causing a translational frameshift with a predicted alternate stop codon (p.C10Wfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024