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NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2023
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:
RCV001011612.4

Allele description [Variation Report for NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)]

NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)
HGVS:
  • NC_000009.12:g.95107155_95107157del
  • NG_011707.1:g.215555_215557del
  • NM_000136.3:c.1444_1446delMANE SELECT
  • NM_001243743.2:c.1444_1446del
  • NP_000127.2:p.Pro482del
  • NP_001230672.1:p.Pro482del
  • LRG_497t1:c.1444_1446del
  • LRG_497:g.215555_215557del
  • NC_000009.11:g.97869435_97869437del
  • NC_000009.11:g.97869437_97869439del
  • NM_000136.2:c.1444_1446del
  • NM_000136.2:c.1444_1446delCCT
  • NM_000136.3:c.1444_1446delCCTMANE SELECT
Protein change:
P482del
Links:
dbSNP: rs773270231
NCBI 1000 Genomes Browser:
rs773270231
Molecular consequence:
  • NM_000136.3:c.1444_1446del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001243743.2:c.1444_1446del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001171954Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 19, 2023) 		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, SCV001171954.5

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

Description

The c.1444_1446delCCT variant (also known as p.P482del) is located in coding exon 13 of the FANCC gene. This variant results from an in-frame CCT deletion at nucleotide positions 1444 to 1446. This results in the in-frame deletion of a proline at codon 482. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024