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NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001358559.2

Allele description [Variation Report for NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)]

NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)

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.650C>T (p.Pro217Leu)
Other names:
p.P217L:CCA>CTA
HGVS:
  • NC_000009.12:g.95149959G>A
  • NG_011707.1:g.172751C>T
  • NM_000136.3:c.650C>TMANE SELECT
  • NM_001243743.2:c.650C>T
  • NM_001243744.2:c.650C>T
  • NP_000127.2:p.Pro217Leu
  • NP_001230672.1:p.Pro217Leu
  • NP_001230673.1:p.Pro217Leu
  • LRG_497t1:c.650C>T
  • LRG_497:g.172751C>T
  • NC_000009.11:g.97912241G>A
  • NM_000136.2:c.650C>T
Protein change:
P217L
Links:
dbSNP: rs730881714
NCBI 1000 Genomes Browser:
rs730881714
Molecular consequence:
  • NM_000136.3:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243744.2:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001554330Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001554330.1

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

Description

The FANCC p.Pro217Leu variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs730881714), and in ClinVar (classified as uncertain significance by GeneDx). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Pro217 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024