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NM_000136.3(FANCC):c.443G>C (p.Gly148Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2017
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:
RCV000477975.1

Allele description [Variation Report for NM_000136.3(FANCC):c.443G>C (p.Gly148Ala)]

NM_000136.3(FANCC):c.443G>C (p.Gly148Ala)

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.443G>C (p.Gly148Ala)
HGVS:
  • NC_000009.12:g.95172050C>G
  • NG_011707.1:g.150660G>C
  • NM_000136.3:c.443G>CMANE SELECT
  • NM_001243743.2:c.443G>C
  • NM_001243744.2:c.443G>C
  • NP_000127.2:p.Gly148Ala
  • NP_001230672.1:p.Gly148Ala
  • NP_001230673.1:p.Gly148Ala
  • LRG_497t1:c.443G>C
  • LRG_497:g.150660G>C
  • NC_000009.11:g.97934332C>G
  • NM_000136.2:c.443G>C
Protein change:
G148A
Links:
dbSNP: rs1064796243
NCBI 1000 Genomes Browser:
rs1064796243
Molecular consequence:
  • NM_000136.3:c.443G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.443G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243744.2:c.443G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572769GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 17, 2017) 		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, SCV000572769.4

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

Description

This variant is denoted FANCC c.443G>C at the cDNA level, p.Gly148Ala (G148A) at the protein level, and results in the change of a Glycine to an Alanine (GGT>GCT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Gly148Ala 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. Since Glycine and Alanine share similar properties, this is considered a conservative amino acid substitution. FANCC Gly148Ala occurs at a position that is not conserved and is located in the RED, FAZF, GRP94, and Hsp70 domains (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether FANCC Gly148Ala 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: Apr 23, 2022