NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) AND Fanconi anemia, complementation group D2

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001294046.1

Allele description [Variation Report for NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)]

NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu)

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.3776A>T (p.Gln1259Leu)
HGVS:
  • NC_000003.12:g.10090384A>T
  • NG_007311.1:g.68956A>T
  • NG_042053.1:g.22848T>A
  • NM_001018115.3:c.3776A>TMANE SELECT
  • NM_001319984.2:c.3776A>T
  • NM_001374253.1:c.3665A>T
  • NM_001374254.1:c.3776A>T
  • NM_033084.6:c.3776A>T
  • NM_173472.2:c.*44-8853T>A
  • NP_001018125.1:p.Gln1259Leu
  • NP_001306913.1:p.Gln1259Leu
  • NP_001361182.1:p.Gln1222Leu
  • NP_001361183.1:p.Gln1259Leu
  • NP_149075.2:p.Gln1259Leu
  • LRG_306:g.68956A>T
  • NC_000003.11:g.10132068A>T
  • NM_033084.4:c.3776A>T
Protein change:
Q1222L
Molecular consequence:
  • NM_173472.2:c.*44-8853T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018115.3:c.3776A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319984.2:c.3776A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374253.1:c.3665A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374254.1:c.3776A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033084.6:c.3776A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001482815Baylor Genetics - CSER-TexasKidsCanSeqcriteria provided, single submitter
Uncertain significance
(Jun 16, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482815.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Mar 12, 2021

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