NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Oct 31, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000670742.4

Allele description [Variation Report for NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)]

NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)

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.3163C>T (p.Arg1055Trp)
HGVS:
  • NC_000016.10:g.89749806G>A
  • NG_011706.1:g.71852C>T
  • NM_000135.4:c.3163C>TMANE SELECT
  • NM_001286167.3:c.3163C>T
  • NP_000126.2:p.Arg1055Trp
  • NP_001273096.1:p.Arg1055Trp
  • LRG_495t1:c.3163C>T
  • LRG_495:g.71852C>T
  • NC_000016.9:g.89816214G>A
  • NM_000135.2:c.3163C>T
Protein change:
R1055W
Links:
dbSNP: rs753063086
NCBI 1000 Genomes Browser:
rs753063086
Molecular consequence:
  • NM_000135.4:c.3163C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.3163C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795636Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 10, 2017)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000894101Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Likely pathogenic
(Oct 31, 2018)
unknownclinical testing

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

SCV001425978Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

SCV001462888Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN, Johnson MA, Yoshitomi MJ, Zhu X, Al-Dhalimy MJ, Olson SB, Grompe M, Richards CS.

Genet Med. 2009 Mar;11(3):183-92. doi: 10.1097/GIM.0b013e318193ba67.

PubMed [citation]
PMID:
19367192

Fanconi anemia signaling network regulates the spindle assembly checkpoint.

Nalepa G, Enzor R, Sun Z, Marchal C, Park SJ, Yang Y, Tedeschi L, Kelich S, Hanenberg H, Clapp DW.

J Clin Invest. 2013 Sep;123(9):3839-47. doi: 10.1172/JCI67364. Epub 2013 Aug 15.

PubMed [citation]
PMID:
23934222
PMCID:
PMC3754252
See all PubMed Citations (9)

Details of each submission

From Counsyl, SCV000795636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics,Fulgent Genetics, SCV000894101.1

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

From Leiden Open Variation Database, SCV001425978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

From Natera, Inc., SCV001462888.1

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

Last Updated: Nov 27, 2021

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