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NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2021
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:
RCV002515863.2

Allele description [Variation Report for NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)]

NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)

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.1727G>C (p.Arg576Thr)
HGVS:
  • NC_000016.10:g.13935659G>C
  • NG_011442.1:g.20503G>C
  • NM_005236.3:c.1727G>CMANE SELECT
  • NP_005227.1:p.Arg576Thr
  • NP_005227.1:p.Arg576Thr
  • LRG_463t1:c.1727G>C
  • LRG_463:g.20503G>C
  • LRG_463p1:p.Arg576Thr
  • NC_000016.9:g.14029516G>C
  • NM_005236.2:c.1727G>C
  • Q92889:p.Arg576Thr
Protein change:
R576T
Links:
UniProtKB: Q92889#VAR_013397; dbSNP: rs1800068
NCBI 1000 Genomes Browser:
rs1800068
Molecular consequence:
  • NM_005236.3:c.1727G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003685116Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 16, 2021) 		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 Ambry Genetics, SCV003685116.2

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

Description

The c.1727G>C (p.R576T) alteration is located in exon 8 (coding exon 8) of the ERCC4 gene. This alteration results from a G to C substitution at nucleotide position 1727, causing the arginine (R) at amino acid position 576 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024