NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Jun 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000667754.2

Allele description [Variation Report for NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)]

NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)

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.2107C>T (p.Gln703Ter)
HGVS:
  • NC_000016.10:g.89771722G>A
  • NG_011706.1:g.49936C>T
  • NM_000135.4:c.2107C>TMANE SELECT
  • NM_001286167.3:c.2107C>T
  • NP_000126.2:p.Gln703Ter
  • NP_001273096.1:p.Gln703Ter
  • LRG_495t1:c.2107C>T
  • LRG_495:g.49936C>T
  • NC_000016.9:g.89838130G>A
  • NM_000135.2:c.2107C>T
Protein change:
Q703*
Links:
dbSNP: rs1555548512
NCBI 1000 Genomes Browser:
rs1555548512
Molecular consequence:
  • NM_000135.4:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000792253Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 20, 2017)
unknownclinical testing

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

Citation Link,

SCV001425954Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 28, 2020)
germlinecuration

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

Summary from all submissions

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

Citations

PubMed

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, et al.

Eur J Hum Genet. 1999 Jan;7(1):52-9.

PubMed [citation]
PMID:
10094191

Details of each submission

From Counsyl, SCV000792253.1

#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, SCV001425954.1

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

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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