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NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 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:
RCV000214884.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)]

NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)

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.1634A>G (p.Lys545Arg)
HGVS:
  • NC_000009.12:g.95101750T>C
  • NG_011707.1:g.220960A>G
  • NM_000136.3:c.1634A>GMANE SELECT
  • NM_001243743.2:c.1634A>G
  • NP_000127.2:p.Lys545Arg
  • NP_001230672.1:p.Lys545Arg
  • LRG_497t1:c.1634A>G
  • LRG_497:g.220960A>G
  • NC_000009.11:g.97864032T>C
  • NM_000136.2:c.1634A>G
Protein change:
K545R
Links:
dbSNP: rs571668582
NCBI 1000 Genomes Browser:
rs571668582
Molecular consequence:
  • NM_000136.3:c.1634A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1634A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279675GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 8, 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, SCV000279675.9

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

Description

This variant is denoted FANCC c.1634A>G at the cDNA level, p.Lys545Arg (K545R) at the protein level, and results in the change of a Lysine to an Arginine (AAA>AGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Lys545Arg was not observed at a significant allele frequency in 1000 Genomes. Since Lysine and Arginine share similar properties, this is considered a conservative amino acid substitution. FANCC Lys545Arg occurs at a position that is not conserved and is located in a region responsible for cdc2 binding (Gordon and Buchwald). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether FANCC Lys545Arg 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: Sep 29, 2024