NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Apr 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000666705.3

Allele description [Variation Report for NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)]

NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
HGVS:
  • NC_000016.10:g.89761949C>T
  • NG_011706.1:g.59709G>A
  • NM_000135.4:c.2852G>AMANE SELECT
  • NM_001286167.3:c.2852G>A
  • NP_000126.2:p.Arg951Gln
  • NP_001273096.1:p.Arg951Gln
  • LRG_495t1:c.2852G>A
  • LRG_495:g.59709G>A
  • NC_000016.9:g.89828357C>T
  • NM_000135.2:c.2852G>A
Protein change:
R951Q
Links:
dbSNP: rs755922289
NCBI 1000 Genomes Browser:
rs755922289
Molecular consequence:
  • NM_000135.4:c.2852G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.2852G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia, complementation group A (FANCA)
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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
SCV000791048Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 24, 2017)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV001452857Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

SCV001737414GeneReviewsno assertion criteria providedPathogenic
(Jun 1, 2021)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, literature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H.

Hum Mol Genet. 2000 Nov 1;9(18):2665-74.

PubMed [citation]
PMID:
11063725

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Gille JJ, Floor K, Kerkhoven L, Ameziane N, Joenje H, de Winter JP.

Anemia. 2012;2012:603253. doi: 10.1155/2012/603253. Epub 2012 Jun 21.

PubMed [citation]
PMID:
22778927
PMCID:
PMC3388349
See all PubMed Citations (8)

Details of each submission

From Counsyl, SCV000791048.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001452857.1

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

From GeneReviews, SCV001737414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Associated with slower hematologic disease progression

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

Last Updated: Nov 27, 2021

Support Center