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NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln) AND Fanconi anemia complementation group C

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003230294.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)]

NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)

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.1645G>C (p.Glu549Gln)
HGVS:
  • NC_000009.12:g.95101739C>G
  • NG_011707.1:g.220971G>C
  • NG_027833.2:g.380042C>G
  • NM_000136.3:c.1645G>CMANE SELECT
  • NM_001243743.2:c.1645G>C
  • NP_000127.2:p.Glu549Gln
  • NP_000127.2:p.Glu549Gln
  • NP_001230672.1:p.Glu549Gln
  • LRG_497t1:c.1645G>C
  • LRG_497:g.220971G>C
  • LRG_497p1:p.Glu549Gln
  • NC_000009.11:g.97864021C>G
  • NM_000136.2:c.1645G>C
Protein change:
E549Q
Molecular consequence:
  • NM_000136.3:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243743.2:c.1645G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia complementation group C (FANCC)
Synonyms:
FANCONI PANCYTOPENIA, TYPE 3; FACC; Fanconi anemia, group C
Identifiers:
MONDO: MONDO:0009213; MedGen: C3468041; Orphanet: 84; OMIM: 227645

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928124St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Apr 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV003928124.1

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

Description

The FANCC c.1645G>C (p.Glu549Gln) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. 

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024