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NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala) AND Fanconi anemia complementation group Q

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003325243.1

Allele description [Variation Report for NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)]

NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)

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.1763T>C (p.Val588Ala)
HGVS:
  • NC_000016.10:g.13935695T>C
  • NG_011442.1:g.20539T>C
  • NM_005236.3:c.1763T>CMANE SELECT
  • NP_005227.1:p.Val588Ala
  • NP_005227.1:p.Val588Ala
  • LRG_463t1:c.1763T>C
  • LRG_463:g.20539T>C
  • LRG_463p1:p.Val588Ala
  • NC_000016.9:g.14029552T>C
  • NM_005236.2:c.1763T>C
Protein change:
V588A
Molecular consequence:
  • NM_005236.3:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031202St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(May 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV004031202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ERCC4 c.1763T>C (p.Val588Ala) missense change has a maximum subpopulation frequency of 0.048% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: Oct 13, 2024