NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) AND Fanconi anemia, complementation group D2

Clinical significance:Pathogenic (Last evaluated: Feb 28, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001194933.1

Allele description [Variation Report for NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)]

NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)

Genes:
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
FANCD2OS:FANCD2 opposite strand [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
HGVS:
  • NC_000003.12:g.10092206G>A
  • NG_007311.1:g.70778G>A
  • NG_042053.1:g.21026C>T
  • NM_001018115.3:c.3803G>AMANE SELECT
  • NM_001319984.2:c.3803G>A
  • NM_001374253.1:c.3692G>A
  • NM_001374254.1:c.3803G>A
  • NM_033084.6:c.3803G>A
  • NM_173472.2:c.*44-10675C>T
  • NP_001018125.1:p.Trp1268Ter
  • NP_001306913.1:p.Trp1268Ter
  • NP_001361182.1:p.Trp1231Ter
  • NP_001361183.1:p.Trp1268Ter
  • NP_149075.2:p.Trp1268Ter
  • LRG_306t1:c.3803G>A
  • LRG_306:g.70778G>A
  • NC_000003.11:g.10133890G>A
  • NC_000003.11:g.10133890G>A
  • NM_001018115.1:c.3803G>A
Protein change:
W1231*
Links:
dbSNP: rs757499508
NCBI 1000 Genomes Browser:
rs757499508
Molecular consequence:
  • NM_173472.2:c.*44-10675C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018115.3:c.3803G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319984.2:c.3803G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374253.1:c.3692G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374254.1:c.3803G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033084.6:c.3803G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Fanconi anemia, complementation group D2 (FANCD2)
Synonyms:
FANCONI PANCYTOPENIA, TYPE 4; FANCONI ANEMIA, COMPLEMENTATION GROUP D
Identifiers:
MONDO: MONDO:0009214; MedGen: C3160738; Orphanet: 84; OMIM: 227646

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364799Leiden 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 providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, et al.

Am J Hum Genet. 2007 May;80(5):895-910. Epub 2007 Apr 6. Erratum in: Am J Hum Genet. 2007 Jul;81(1):196.

PubMed [citation]
PMID:
17436244
PMCID:
PMC1852747

Details of each submission

From Leiden Open Variation Database, SCV001364799.1

#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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