NM_000136.3(FANCC):c.271A>G (p.Ile91Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000518928.1

Allele description [Variation Report for NM_000136.3(FANCC):c.271A>G (p.Ile91Val)]

NM_000136.3(FANCC):c.271A>G (p.Ile91Val)

Gene:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.271A>G (p.Ile91Val)
HGVS:
  • NC_000009.12:g.95240723T>C
  • NG_011707.1:g.81987A>G
  • NM_000136.3:c.271A>G
  • NM_001243743.1:c.271A>G
  • NM_001243744.1:c.271A>G
  • NP_000127.2:p.Ile91Val
  • NP_001230672.1:p.Ile91Val
  • NP_001230673.1:p.Ile91Val
  • LRG_497t1:c.271A>G
  • LRG_497:g.81987A>G
  • NC_000009.11:g.98003005T>C
  • NM_000136.2:c.271A>G
Protein change:
I91V
Links:
dbSNP: rs771619614
NCBI 1000 Genomes Browser:
rs771619614
Molecular consequence:
  • NM_000136.3:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.1:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243744.1:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000617153GeneDxcriteria provided, single submitter
Uncertain significance
(May 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000617153.1

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

Description

This variant is denoted FANCC c.271A>G at the cDNA level, p.Ile91Val (I91V) at the protein level, and results in the change of an Isoleucine to a Valine (ATA>GTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ile91Val was not observed at a significant frequency in large population cohorts (Lek 2016, The 1000 Genomes Consortium 2015, NHLBI Exome Sequencing Project). Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. FANCC Ile91Val occurs at a position that is not conserved and is located within the region that interacts with RED (Gordon 2000). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether FANCC Ile91Val 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: Jan 14, 2020

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