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NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2022
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:
RCV002326920.2

Allele description [Variation Report for NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)]

NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)

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.440C>T (p.Pro147Leu)
Other names:
p.P147L:CCT>CTT
HGVS:
  • NC_000009.12:g.95172053G>A
  • NG_011707.1:g.150657C>T
  • NM_000136.3:c.440C>TMANE SELECT
  • NM_001243743.2:c.440C>T
  • NM_001243744.2:c.440C>T
  • NP_000127.2:p.Pro147Leu
  • NP_001230672.1:p.Pro147Leu
  • NP_001230673.1:p.Pro147Leu
  • LRG_497t1:c.440C>T
  • LRG_497:g.150657C>T
  • NC_000009.11:g.97934335G>A
  • NM_000136.2:c.440C>T
Protein change:
P147L
Links:
dbSNP: rs730881711
NCBI 1000 Genomes Browser:
rs730881711
Molecular consequence:
  • NM_000136.3:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243744.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002629144Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline Mutations in Predisposition Genes in Pediatric Cancer.

Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, et al.

N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.

PubMed [citation]
PMID:
26580448
PMCID:
PMC4734119

Details of each submission

From Ambry Genetics, SCV002629144.2

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

Description

The p.P147L variant (also known as c.440C>T), located in coding exon 4 of the FANCC gene, results from a C to T substitution at nucleotide position 440. The proline at codon 147 is replaced by leucine, an amino acid with similar properties. This variant has been reported in 1/1120 pediatric cancer patients who underwent whole genome sequencing and/or whole exome sequencing; this patient was diagnosed with neuroblastoma (Zhang J et al. N. Engl. J. Med., 2015 Dec;373:2336-2346). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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