NM_000136.3(FANCC):c.1073-1G>C AND Fanconi anemia, complementation group C

Clinical significance:Likely pathogenic (Last evaluated: Nov 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:
RCV000670553.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1073-1G>C]

NM_000136.3(FANCC):c.1073-1G>C

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1073-1G>C
HGVS:
  • NC_000009.12:g.95114711C>G
  • NG_011707.1:g.207999G>C
  • NM_000136.3:c.1073-1G>CMANE SELECT
  • NM_001243743.2:c.1073-1G>C
  • NM_001243744.2:c.1073-1G>C
  • LRG_497t1:c.1073-1G>C
  • LRG_497:g.207999G>C
  • NC_000009.11:g.97876993C>G
  • NM_000136.2:c.1073-1G>C
Links:
dbSNP: rs1554830249
NCBI 1000 Genomes Browser:
rs1554830249
Molecular consequence:
  • NM_000136.3:c.1073-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001243743.2:c.1073-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001243744.2:c.1073-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795416Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 15, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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