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NM_000136.3(FANCC):c.1550dup (p.Ile518fs) AND Fanconi anemia complementation group C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001195059.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1550dup (p.Ile518fs)]

NM_000136.3(FANCC):c.1550dup (p.Ile518fs)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)
HGVS:
  • NC_000009.12:g.95101834dup
  • NG_011707.1:g.220876dup
  • NM_000136.3:c.1550dupMANE SELECT
  • NM_001243743.2:c.1550dup
  • NP_000127.2:p.Ile518fs
  • NP_001230672.1:p.Ile518fs
  • LRG_497t1:c.1550dup
  • LRG_497:g.220876dup
  • NC_000009.11:g.97864116dup
  • NM_000136.2:c.1550dup
Protein change:
I518fs
Links:
dbSNP: rs2071089000
NCBI 1000 Genomes Browser:
rs2071089000
Molecular consequence:
  • NM_000136.3:c.1550dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.1550dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365341Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Feb 28, 2020) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

Lo ten Foe JR, Barel MT, Thuss P, Digweed M, Arwert F, Joenje H.

Hum Genet. 1996 Nov;98(5):522-3.

PubMed [citation]
PMID:
8882868

Details of each submission

From Leiden Open Variation Database, SCV001365341.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

Last Updated: Jan 7, 2023