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

Clinical significance:Pathogenic (Last evaluated: Jul 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000528984.4

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]

Condition(s)

Name:
Fanconi anemia (FA)
Synonyms:
Fanconi pancytopenia; Fanconi's anemia
Identifiers:
MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000626250Invitaecriteria provided, single submitter
Pathogenic
(Jul 30, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PubMed [citation]
PMID:
17924555
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000626250.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu163Ilefs*30) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant has been observed in an individual affected with ovarian cancer (PMID: 26681312). ClinVar contains an entry for this variant (Variation ID: 182465). Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 6, 2021

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