NM_000136.3(FANCC):c.487_490del (p.Glu163fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001023180.1

Allele description [Variation Report for NM_000136.3(FANCC):c.487_490del (p.Glu163fs)]

NM_000136.3(FANCC):c.487_490del (p.Glu163fs)

Gene:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
HGVS:
  • NC_000009.11:g.97933392_97933395del
  • NC_000009.12:g.95171111CT[1]
  • NG_011707.1:g.151595GA[1]
  • NM_000136.3:c.487_490delMANE SELECT
  • NM_001243743.2:c.487_490del
  • NM_001243744.2:c.487_490del
  • NP_000127.2:p.Glu163fs
  • NP_001230672.1:p.Glu163fs
  • NP_001230673.1:p.Glu163fs
  • LRG_497t1:c.487_490del
  • LRG_497:g.151595GA[1]
  • NC_000009.11:g.97933392_97933395del
  • NC_000009.11:g.97933393CT[1]
  • NC_000009.11:g.97933395_97933398delCTCT
  • NM_000136.2:c.487_490del
  • NM_000136.2:c.487_490delGAGA
  • NM_000136.3:c.487_490delGAGAMANE SELECT
  • p.E163IfsX30
Protein change:
E163fs
Links:
dbSNP: rs730881708
NCBI 1000 Genomes Browser:
rs730881708
Molecular consequence:
  • NM_000136.3:c.487_490del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.487_490del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243744.2:c.487_490del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001185015Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 7, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2.

PubMed [citation]
PMID:
26681312
PMCID:
PMC4985612

Details of each submission

From Ambry Genetics, SCV001185015.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.487_490delGAGA variant, located in coding exon 5 of the FANCC gene, results from a deletion of 4 nucleotides at nucleotide positions 487 to 490, causing a translational frameshift with a predicted alternate stop codon (p.E163Ifs*30). This alteration was identified in 1/10030 consecutive patients referred for evaluation by an NGS hereditary cancer panel; this patient had ovarian cancer and RAD51C c.404+2C>T variant (Susswein LR et al. Genet. Med. 2016 08;18:823-32). In addition to the clinical data presented in the literature, 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 6, 2021

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