NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) AND Fanconi anemia, complementation group C

Clinical significance:Likely pathogenic (Last evaluated: Jan 2, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000984263.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)]

NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)

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.1069C>T (p.Gln357Ter)
HGVS:
  • NC_000009.12:g.95117318G>A
  • NG_011707.1:g.205392C>T
  • NM_000136.3:c.1069C>TMANE SELECT
  • NM_001243743.2:c.1069C>T
  • NM_001243744.2:c.1069C>T
  • NP_000127.2:p.Gln357Ter
  • NP_001230672.1:p.Gln357Ter
  • NP_001230673.1:p.Gln357Ter
  • LRG_497t1:c.1069C>T
  • LRG_497:g.205392C>T
  • NC_000009.11:g.97879600G>A
  • NM_000136.2:c.1069C>T
Protein change:
Q357*
Links:
dbSNP: rs759900071
NCBI 1000 Genomes Browser:
rs759900071
Molecular consequence:
  • NM_000136.3:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243743.2:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243744.2:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001132389Counsylno assertion criteria providedLikely pathogenic
(Jan 2, 2014)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Counsyl, SCV001132389.1

#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 30, 2021

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