NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs) AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic (Last evaluated: Nov 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000003613.3

Allele description [Variation Report for NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs)]

NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs)

Gene:
FANCA:Fanconi anemia complementation group A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs)
HGVS:
  • NC_000016.10:g.89745027dupC
  • NG_011706.1:g.76631dup
  • NM_000135.3:c.3558dup
  • NP_000126.2:p.Arg1187Glufs
  • LRG_495t1:c.3558dupG
  • LRG_495:g.76631dup
  • LRG_495p1:p.Arg1187Glufs
  • NC_000016.9:g.89811435dupC
  • NM_000135.2:c.3558dupG
Note:
NCBI staff reviewed the sequence information reported in PubMed 10431244 Fig. 3a to determine the location of this allele on the current reference sequence.
Nucleotide change:
1-NT DEL, 3559G
Links:
OMIM: 607139.0006; dbSNP: 747851434
NCBI 1000 Genomes Browser:
rs747851434
Molecular consequence:
  • NM_000135.3:c.3558dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Fanconi anemia, complementation group A (FANCA)
Synonyms:
Fanconi Anemia
Identifiers:
MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023771OMIMno assertion criteria providedPathogenic
(Aug 1, 1999)
germlineliterature only

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

SCV000486649Counsylcriteria provided, single submitter
Pathogenic
(Nov 2, 2016)
unknownclinical testing

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

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 providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME, Ianzano L, Gibson RA, Arwert F, Savoia A, Mathew CG, Pronk JC, Joenje H.

Nat Genet. 1999 Aug;22(4):379-83.

PubMed [citation]
PMID:
10431244

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H.

Hum Mutat. 2008 Jan;29(1):159-66.

PubMed [citation]
PMID:
17924555

Details of each submission

From OMIM, SCV000023771.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with Fanconi anemia (FANCA; 227650), Waisfisz et al. (1999) found a 3559insG frameshift in exon 36 of the FANCA gene on both alleles. An additional de novo insertion (3580insCGCTG or 3576insGCTGC) in the same exon restored the open reading frame.

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

From Counsyl, SCV000486649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 1, 2017