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NM_000136.3(FANCC):c.1534-1G>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 22, 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:
RCV002388182.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1534-1G>T]

NM_000136.3(FANCC):c.1534-1G>T

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.1534-1G>T
HGVS:
  • NC_000009.12:g.95101851C>A
  • NG_011707.1:g.220859G>T
  • NG_027833.2:g.380154C>A
  • NG_116860.1:g.293C>A
  • NM_000136.3:c.1534-1G>TMANE SELECT
  • NM_001243743.2:c.1534-1G>T
  • LRG_497t1:c.1534-1G>T
  • LRG_497:g.220859G>T
  • NC_000009.11:g.97864133C>A
  • NM_000136.2:c.1534-1G>T
Links:
dbSNP: rs1364238660
NCBI 1000 Genomes Browser:
rs1364238660
Molecular consequence:
  • NM_000136.3:c.1534-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001243743.2:c.1534-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002703893Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Feb 22, 2021) 		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, SCV002703893.2

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

Description

The c.1534-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 14 of the FANCC gene. This alteration occurs at the 3' terminus of the FANCC gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 8% of the protein. The exact functional effect of this alteration is unknown; however, the impacted region is critical for protein function (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 1, 2024