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NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 23, 2020
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:
RCV002393604.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)]

NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)

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.1244C>A (p.Ala415Glu)
HGVS:
  • NC_000009.12:g.95111548G>T
  • NG_011707.1:g.211162C>A
  • NM_000136.3:c.1244C>AMANE SELECT
  • NM_001243743.2:c.1244C>A
  • NM_001243744.2:c.1244C>A
  • NP_000127.2:p.Ala415Glu
  • NP_001230672.1:p.Ala415Glu
  • NP_001230673.1:p.Ala415Glu
  • LRG_497t1:c.1244C>A
  • LRG_497:g.211162C>A
  • NC_000009.11:g.97873830G>T
  • NC_000009.11:g.97873830G>T
  • NM_000136.2:c.1244C>A
Protein change:
A415E
Links:
dbSNP: rs550462055
NCBI 1000 Genomes Browser:
rs550462055
Molecular consequence:
  • NM_000136.3:c.1244C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1244C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243744.2:c.1244C>A - 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
SCV002668573Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 23, 2020) 		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, SCV002668573.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024