U.S. flag

An official website of the United States government

NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 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:
RCV000160490.11

Allele description [Variation Report for NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg)]

NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg)

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.1516T>C (p.Trp506Arg)
Other names:
p.W506R:TGG>CGG
HGVS:
  • NC_000009.12:g.95107083A>G
  • NG_011707.1:g.215627T>C
  • NG_027833.2:g.385386A>G
  • NM_000136.3:c.1516T>CMANE SELECT
  • NM_001243743.2:c.1516T>C
  • NP_000127.2:p.Trp506Arg
  • NP_000127.2:p.Trp506Arg
  • NP_001230672.1:p.Trp506Arg
  • LRG_497t1:c.1516T>C
  • LRG_497:g.215627T>C
  • LRG_497p1:p.Trp506Arg
  • NC_000009.11:g.97869365A>G
  • NM_000136.2:c.1516T>C
  • NM_001243744.1:c.*4113T>C
Protein change:
W506R
Links:
dbSNP: rs730881726
NCBI 1000 Genomes Browser:
rs730881726
Molecular consequence:
  • NM_000136.3:c.1516T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1516T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211055GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 5, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211055.10

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

Description

This variant is denoted FANCC c.1516T>C at the cDNA level, p.Trp506Arg (W506R) at the protein level, and results in the change of a Tryptophan to an Arginine (TGG>CGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Trp506Arg 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. Since Tryptophan and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Trp506Arg occurs at a position that is variable across species and is located in the cdc2 binding domain (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether FANCC Trp506Arg is pathogenic or benign. 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: Oct 26, 2024