U.S. flag

An official website of the United States government

NM_000136.3(FANCC):c.686+5G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2016
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:
RCV000485260.1

Allele description

NM_000136.3(FANCC):c.686+5G>A

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.686+5G>A
HGVS:
  • NC_000009.12:g.95149918C>T
  • NG_011707.1:g.172792G>A
  • NM_000136.3:c.686+5G>AMANE SELECT
  • NM_001243743.2:c.686+5G>A
  • NM_001243744.2:c.686+5G>A
  • LRG_497t1:c.686+5G>A
  • LRG_497:g.172792G>A
  • NC_000009.11:g.97912200C>T
  • NM_000136.2:c.686+5G>A
Links:
dbSNP: rs1064794691
NCBI 1000 Genomes Browser:
rs1064794691
Molecular consequence:
  • NM_000136.3:c.686+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243743.2:c.686+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243744.2:c.686+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000569731GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 30, 2016) 		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, SCV000569731.3

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

Description

This variant is denoted FANCC c.686+5G>A or IVS7+5G>A and consists of a G>A nucleotide substitution at the +5 position of intron 7 of the FANCC gene. Multiple in silico models predict this variant to damage the nearby natural donor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC c.686+5G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The guanine (G) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether FANCC c.686+5G>A 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: May 26, 2024