NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000058925.5

Allele description [Variation Report for NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)]

NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)

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.1661T>C (p.Leu554Pro)
HGVS:
  • NC_000009.12:g.95101723A>G
  • NG_011707.1:g.220987T>C
  • NM_000136.3:c.1661T>CMANE SELECT
  • NM_001243743.2:c.1661T>C
  • NP_000127.2:p.Leu554Pro
  • NP_000127.2:p.Leu554Pro
  • NP_001230672.1:p.Leu554Pro
  • LRG_497t1:c.1661T>C
  • LRG_497:g.220987T>C
  • LRG_497p1:p.Leu554Pro
  • NC_000009.11:g.97864005A>G
  • NM_000136.2:c.1661T>C
  • Q00597:p.Leu554Pro
Protein change:
L554P; LEU554PRO
Links:
UniProtKB: Q00597#VAR_005233; OMIM: 613899.0001; dbSNP: rs104886458
NCBI 1000 Genomes Browser:
rs104886458
Molecular consequence:
  • NM_000136.3:c.1661T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1661T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090446SNPediano assertion providednot providedgermlinenot provided

SCV000512973GeneDxcriteria provided, single submitter
Pathogenic
(Dec 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From SNPedia, SCV000090446.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000512973.5

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

Description

Identified in two siblings with Fanconi anemia (Verlander 1994); Identified in individuals with breast and other cancers (Thompson 2012, Chandrasekharappa 2017); Published functional studies demonstrate a damaging effect: decreased capacity to tolerate mitomycin C and the inability to bind to FANCA, FANCE, and cdc2 (Gavish 1993, Youssoufian 1996, Kupfer 1997a, Kupfer 1997b, Gordon 2000); Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9398857, 8128956, 23028338, 26466335, 20301575, 9242535, 12397061, 8499901, 1574115, 8613549, 24469828, 28678401)

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

Last Updated: Nov 27, 2021

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