NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) AND Fanconi anemia, complementation group Q

Clinical significance:Uncertain significance (Last evaluated: Mar 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001292797.1

Allele description [Variation Report for NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)]

NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)

Gene:
ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.12
Genomic location:
Preferred name:
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
HGVS:
  • NC_000016.10:g.13935513A>T
  • NG_011442.1:g.20357A>T
  • NM_005236.3:c.1581A>TMANE SELECT
  • NP_005227.1:p.Glu527Asp
  • LRG_463t1:c.1581A>T
  • LRG_463:g.20357A>T
  • NC_000016.9:g.14029370A>T
  • NM_005236.2:c.1581A>T
Protein change:
E527D
Links:
Molecular consequence:
  • NM_005236.3:c.1581A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fanconi anemia, complementation group Q (FANCQ)
Identifiers:
MONDO: MONDO:0014108; MedGen: C3808988; Orphanet: 84; OMIM: 615272

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001481451Baylor Genetics - CSER-TexasKidsCanSeqcriteria provided, single submitter
Uncertain significance
(Mar 9, 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, SCV001481451.2

#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: Apr 12, 2021

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