NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) AND Fanconi anemia, complementation group A

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 26, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000672395.2

Allele description [Variation Report for NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)]

NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)

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.2529C>A (p.Tyr843Ter)
HGVS:
  • NC_000016.10:g.89767213G>T
  • NG_011706.1:g.54445C>A
  • NM_000135.4:c.2529C>AMANE SELECT
  • NM_001286167.3:c.2529C>A
  • NP_000126.2:p.Tyr843Ter
  • NP_001273096.1:p.Tyr843Ter
  • LRG_495t1:c.2529C>A
  • LRG_495:g.54445C>A
  • NC_000016.9:g.89833621G>T
  • NM_000135.2:c.2529C>A
Protein change:
Y843*
Links:
dbSNP: rs1247378731
NCBI 1000 Genomes Browser:
rs1247378731
Molecular consequence:
  • NM_000135.4:c.2529C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.2529C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000797494Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 26, 2018)
unknownclinical testing

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

Citation Link,

SCV000889967Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesotacriteria provided, single submitter
Pathogenic
(Jun 22, 2017)
germlineclinical testing

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

SCV001425824Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot provided1not providedclinical testing, curation

Citations

PubMed

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

Chandra S, Levran O, Jurickova I, Maas C, Kapur R, Schindler D, Henry R, Milton K, Batish SD, Cancelas JA, Hanenberg H, Auerbach AD, Williams DA.

Mol Ther. 2005 Nov;12(5):976-84. Epub 2005 Aug 9.

PubMed [citation]
PMID:
16084127

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD.

Hum Mutat. 2005 Feb;25(2):142-9.

PubMed [citation]
PMID:
15643609
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000797494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000889967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Leiden Open Variation Database, SCV001425824.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

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

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

Last Updated: Nov 27, 2021

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