NM_000082.4(ERCC8):c.1068C>A (p.Cys356Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 29, 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:: RCV001203230.6

Allele description [Variation Report for NM_000082.4(ERCC8):c.1068C>A (p.Cys356Ter)]

NM_000082.4(ERCC8):c.1068C>A (p.Cys356Ter)

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.1068C>A (p.Cys356Ter)

HGVS:

NC_000005.10:g.60887494G>T
NG_009289.1:g.62585C>A
NM_000082.4:c.1068C>AMANE SELECT
NM_001007233.3:c.894C>A
NM_001290285.2:c.609C>A
NP_000073.1:p.Cys356Ter
NP_001007234.1:p.Cys298Ter
NP_001277214.1:p.Cys203Ter
LRG_466t1:c.1068C>A
LRG_466:g.62585C>A
NC_000005.9:g.60183321G>T
NM_000082.3:c.1068C>A

Protein change:

C203*

Links:

dbSNP: rs141898557

NCBI 1000 Genomes Browser:

rs141898557

Molecular consequence:

NM_000082.4:c.1068C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001007233.3:c.894C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001290285.2:c.609C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens cDNA FLJ46378 fis, clone TESTI4052775
Homo sapiens cDNA FLJ46378 fis, clone TESTI4052775
gi|34535526|dbj|AK128244.1|

Nucleotide
Homo sapiens clone PP1143 unknown mRNA
Homo sapiens clone PP1143 unknown mRNA
gi|10441868|gb|AF217969.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001374383	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 29, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29572252, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001374383

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 29, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR.

J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23.

PubMed [citation]

PMID:: 29572252

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001374383.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Cys356*) in the ERCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 29572252). This variant is present in population databases (rs141898557, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ERCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 934772). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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