NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) AND Fanconi anemia, complementation group A

Clinical significance:Likely pathogenic (Last evaluated: Apr 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000674289.2

Allele description [Variation Report for NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)]

NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)

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.2026C>T (p.Gln676Ter)
HGVS:
  • NC_000016.10:g.89771803G>A
  • NG_011706.1:g.49855C>T
  • NM_000135.4:c.2026C>TMANE SELECT
  • NM_001286167.3:c.2026C>T
  • NP_000126.2:p.Gln676Ter
  • NP_001273096.1:p.Gln676Ter
  • LRG_495t1:c.2026C>T
  • LRG_495:g.49855C>T
  • NC_000016.9:g.89838211G>A
  • NM_000135.2:c.2026C>T
Protein change:
Q676*
Links:
dbSNP: rs1448463647
NCBI 1000 Genomes Browser:
rs1448463647
Molecular consequence:
  • NM_000135.4:c.2026C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286167.3:c.2026C>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
SCV000799599Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 26, 2018)
unknownclinical testing

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

Citation Link,

SCV001425949Leiden 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 providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528

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

Details of each submission

From Counsyl, SCV000799599.1

#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 Leiden Open Variation Database, SCV001425949.1

#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: Jan 8, 2022

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