NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 7, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000665186.6

Allele description [Variation Report for NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)]

NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)

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.3391A>G (p.Thr1131Ala)
HGVS:
  • NC_000016.10:g.89746848T>C
  • NG_011706.1:g.74810A>G
  • NM_000135.4:c.3391A>GMANE SELECT
  • NM_001286167.3:c.3391A>G
  • NP_000126.2:p.Thr1131Ala
  • NP_001273096.1:p.Thr1131Ala
  • LRG_495t1:c.3391A>G
  • LRG_495:g.74810A>G
  • NC_000016.9:g.89813256T>C
  • NM_000135.2:c.3391A>G
  • O15360:p.Thr1131Ala
Protein change:
T1131A
Links:
UniProtKB: O15360#VAR_009653; dbSNP: rs574034197
NCBI 1000 Genomes Browser:
rs574034197
Molecular consequence:
  • NM_000135.4:c.3391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.3391A>G - 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
SCV000789260Counsylno assertion criteria providedLikely pathogenic
(Jan 17, 2017)
unknownclinical testing

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

SCV000894100Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Likely pathogenic
(Oct 31, 2018)
unknownclinical testing

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

SCV001425707Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

SCV001462879Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

SCV001481589Baylor Genetics - CSER-TexasKidsCanSeqcriteria provided, single submitter
Pathogenic
(Jan 7, 2020)
maternalclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002022312PerkinElmer Genomicsno assertion criteria providedPathogenic
(Jun 12, 2019)
germlineclinical testing

Summary from all submissions

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

Diagnosis of Fanconi anemia in patients with bone marrow failure.

Pinto FO, Leblanc T, Chamousset D, Le Roux G, Brethon B, Cassinat B, Larghero J, de Villartay JP, Stoppa-Lyonnet D, Baruchel A, SociƩ G, Gluckman E, Soulier J.

Haematologica. 2009 Apr;94(4):487-95. doi: 10.3324/haematol.13592. Epub 2009 Mar 10.

PubMed [citation]
PMID:
19278965
PMCID:
PMC2663612
See all PubMed Citations (11)

Details of each submission

From Counsyl, SCV000789260.2

#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, SCV000894100.1

#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, SCV001425707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter, Sue Richards.

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

From Natera, Inc., SCV001462879.1

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

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481589.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as pathogenic [PMID 9371798, 26556299, 27577878, 25525159, ClinVar ID: 237048]

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

From PerkinElmer Genomics, SCV002022312.1

#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 28, 2021

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