NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000657680.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)]

NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
HGVS:
  • NC_000009.12:g.95111483G>A
  • NG_011707.1:g.211227C>T
  • NM_000136.3:c.1309C>TMANE SELECT
  • NM_001243743.2:c.1309C>T
  • NM_001243744.2:c.1309C>T
  • NP_000127.2:p.Gln437Ter
  • NP_001230672.1:p.Gln437Ter
  • NP_001230673.1:p.Gln437Ter
  • LRG_497t1:c.1309C>T
  • LRG_497:g.211227C>T
  • NC_000009.11:g.97873765G>A
  • NM_000136.2:c.1309C>T
Protein change:
Q437*
Links:
dbSNP: rs944083227
NCBI 1000 Genomes Browser:
rs944083227
Molecular consequence:
  • NM_000136.3:c.1309C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243743.2:c.1309C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243744.2:c.1309C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779429GeneDxcriteria provided, single submitter
Likely pathogenic
(May 5, 2016)
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, SCV000779429.1

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

Description

This variant is denoted FANCC c.1309C>T at the cDNA level and p.Gln437Ter (Q437X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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

Last Updated: Nov 27, 2021

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