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NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2017
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:
RCV000523904.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe)]

NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe)
HGVS:
  • NC_000009.12:g.95101837_95101838delinsAA
  • NG_011707.1:g.220872_220873delinsTT
  • NM_000136.3:c.1546_1547delinsTTMANE SELECT
  • NM_001243743.2:c.1546_1547delinsTT
  • NP_000127.2:p.Ala516Phe
  • NP_001230672.1:p.Ala516Phe
  • LRG_497t1:c.1546_1547delGCinsTT
  • LRG_497:g.220872_220873delinsTT
  • NC_000009.11:g.97864119_97864120delinsAA
  • NM_000136.2:c.1546_1547delGCinsTT
Protein change:
A516F
Links:
dbSNP: rs1554827162
NCBI 1000 Genomes Browser:
rs1554827162
Molecular consequence:
  • NM_000136.3:c.1546_1547delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1546_1547delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618480GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 15, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618480.1

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

Description

This variant is denoted FANCC c.1546_1547delGCinsTT at the cDNA level, p.Ala516Phe (A516F) at the protein level. The surrounding sequence is CACT[delGC][insTT]TGAG. This in frame deletion and insertion occurs on the same allele (in cis) and results in the missense change of an Alanine to a Phenylalanine (GCT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Neither FANCC c.1546_1547delGCinsTT nor FANCC Ala516Phe were observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Alanine and Phenylalanine differ in some properties, this is considered a semi-conservative amino acid substitution. FANCC Ala516Phe occurs at a position that is not conserved and is located in the cdc2 binding domain (Gordon & Buchwald 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether FANCC Ala516Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: May 1, 2024