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NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2015
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:
RCV000485198.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)]

NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)

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.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)
HGVS:
  • NC_000009.12:g.95107241_95107244delinsTGGC
  • NG_011707.1:g.215466_215469delinsGCCA
  • NM_000136.3:c.1355_1358delinsGCCAMANE SELECT
  • NM_001243743.2:c.1355_1358delinsGCCA
  • NP_000127.2:p.His452_Leu453delinsArgHis
  • NP_001230672.1:p.His452_Leu453delinsArgHis
  • LRG_497t1:c.1355_1358delinsGCCA
  • LRG_497:g.215466_215469delinsGCCA
  • NC_000009.11:g.97869523_97869526delinsTGGC
  • NM_000136.2:c.1355_1358delACCTinsGCCA
  • NM_000136.2:c.1355_1358delinsGCCA
Links:
dbSNP: rs1064793615
NCBI 1000 Genomes Browser:
rs1064793615
Molecular consequence:
  • NM_000136.3:c.1355_1358delinsGCCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1355_1358delinsGCCA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000566608GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 15, 2015) 		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, SCV000566608.3

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

Description

This variant is denoted FANCC c.1355_1358delACCTinsGCCA at the cDNA level and p.His452_Leu453delinsArgHis (H452_L453delinsRH) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is GGCC[ACCT][GCCA]CCTG. The deletion and insertion results in two amino acid substitutions: His452Arg and Leu453His. Neither this combined variant nor the two missense variants have, to our knowledge, been reported in the literature as pathogenic or benign. FANCC c.1355_1358delACCTinsGCCA was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant occurs in a region which is not conserved and is not located in a known functional domain. Based on currently available information, we consider FANCC c.1355_1358delACCTinsGCCA to be a variant of uncertain significance.

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

Last Updated: Feb 7, 2023