NM_000136.3(FANCC):c.487_490del (p.Glu163fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000160466.3

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211031GeneDxcriteria provided, single submitter
Likely pathogenic
(Oct 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211031.11

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

Description

This deletion of four nucleotides is denoted FANCC c.487_490delGAGA at the cDNA level and p.Glu163IlefsX30 (E163IfsX30) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAGA[delGAGA]ATCA. The deletion causes a frameshift, which changes a Glutamic Acid to an Isoleucine at codon 163, and creates a premature stop codon at position 30 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. FANCC c.487_490delGAGA has been reported in at least one individual with ovarian cancer (Susswein 2016). Based on currently available information, we consider this to be a likely pathogenic variant.

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

Last Updated: Sep 6, 2021

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