NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) AND Cockayne syndrome type A

Clinical significance:Likely pathogenic (Last evaluated: Dec 28, 2019)

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:
RCV001264275.1

Allele description [Variation Report for NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)]

NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)

Gene:
ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q12.1
Genomic location:
Preferred name:
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)
HGVS:
  • NC_000005.10:g.60928942A>T
  • NG_009289.1:g.21137T>A
  • NM_000082.4:c.95T>AMANE SELECT
  • NM_001007233.3:c.-298T>A
  • NM_001007234.3:c.95T>A
  • NM_001290285.2:c.-283T>A
  • NP_000073.1:p.Leu32Ter
  • NP_001007235.1:p.Leu32Ter
  • LRG_466:g.21137T>A
  • NC_000005.9:g.60224769A>T
Protein change:
L32*
Links:
dbSNP: rs1749828987
NCBI 1000 Genomes Browser:
rs1749828987
Molecular consequence:
  • NM_001007233.3:c.-298T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001290285.2:c.-283T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000082.4:c.95T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001007234.3:c.95T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cockayne syndrome type A (CSA)
Synonyms:
Cockayne syndrome classical; Cockayne syndrome classic form; Cockayne syndrome type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019569; MedGen: C0751039; Orphanet: 191; OMIM: 216400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001442378Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Dec 28, 2019)
unknownclinical testing

Citation Link

Description

NM_000082.3(ERCC8):c.95T>A(L32*) is expected to be pathogenic in the context of ERCC8-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ERCC8, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

SCV001442378

Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001442378.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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