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NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2024
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:
RCV002377504.3

Allele description [Variation Report for NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)]

NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)

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.1272G>A (p.Trp424Ter)
HGVS:
  • NC_000009.12:g.95111520C>T
  • NG_011707.1:g.211190G>A
  • NM_000136.3:c.1272G>AMANE SELECT
  • NM_001243743.2:c.1272G>A
  • NM_001243744.2:c.1272G>A
  • NP_000127.2:p.Trp424Ter
  • NP_001230672.1:p.Trp424Ter
  • NP_001230673.1:p.Trp424Ter
  • LRG_497t1:c.1272G>A
  • LRG_497:g.211190G>A
  • NC_000009.11:g.97873802C>T
  • NM_000136.2:c.1272G>A
Protein change:
W424*
Links:
dbSNP: rs2134548133
NCBI 1000 Genomes Browser:
rs2134548133
Molecular consequence:
  • NM_000136.3:c.1272G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243743.2:c.1272G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243744.2:c.1272G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002684719Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 1, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002684719.3

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

Description

The p.W424* pathogenic mutation (also known as c.1272G>A), located in coding exon 12 of the FANCC gene, results from a G to A substitution at nucleotide position 1272. This changes the amino acid from a tryptophan to a stop codon within coding exon 12. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024