NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) AND Fanconi anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 24, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001993301.4

Allele description [Variation Report for NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)]

NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)

Gene:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)
HGVS:
  • NC_000009.12:g.95249247C>T
  • NG_011707.1:g.73463G>A
  • NM_000136.2:c.45G>A
  • NM_000136.3:c.45G>AMANE SELECT
  • NM_001243743.2:c.45G>A
  • NM_001243744.2:c.45G>A
  • NP_000127.2:p.Trp15Ter
  • NP_001230672.1:p.Trp15Ter
  • NP_001230673.1:p.Trp15Ter
  • LRG_497t1:c.45G>A
  • LRG_497:g.73463G>A
  • NC_000009.11:g.98011529C>T
  • NM_000136.3:c.45G>A
Protein change:
W15*
Links:
dbSNP: rs1831179586
NCBI 1000 Genomes Browser:
rs1831179586
Molecular consequence:
  • NM_000136.3:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243743.2:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243744.2:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002230691Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 24, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, et al.

J Natl Cancer Inst. 2020 Dec 14;112(12):1213-1221. doi: 10.1093/jnci/djaa040. Erratum in: J Natl Cancer Inst. 2020 Oct 1;112(10):1071. doi: 10.1093/jnci/djaa086.

PubMed [citation]
PMID:
32427313
PMCID:
PMC7735769
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002230691.3

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp15*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). 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 29, 2024