NM_000136.3(FANCC):c.831del (p.Asp278fs) AND Fanconi anemia, complementation group C

Clinical significance:Likely pathogenic (Last evaluated: Apr 20, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410893.1

Allele description [Variation Report for NM_000136.3(FANCC):c.831del (p.Asp278fs)]

NM_000136.3(FANCC):c.831del (p.Asp278fs)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.831del (p.Asp278fs)
HGVS:
  • NC_000009.12:g.95135361del
  • NG_011707.1:g.187352del
  • NM_000136.3:c.831delMANE SELECT
  • NM_001243743.2:c.831del
  • NM_001243744.2:c.831del
  • NP_000127.2:p.Asp278fs
  • NP_001230672.1:p.Asp278fs
  • NP_001230673.1:p.Asp278fs
  • LRG_497t1:c.831del
  • LRG_497:g.187352del
  • NC_000009.11:g.97897643del
  • NM_000136.2:c.831delA
Protein change:
D278fs
Links:
dbSNP: rs1057516792
NCBI 1000 Genomes Browser:
rs1057516792
Molecular consequence:
  • NM_000136.3:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243743.2:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243744.2:c.831del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486228Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 20, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486228.1

#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

Support Center