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NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) AND Cockayne syndrome type 2

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 27, 2017
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:
RCV000001776.9

Allele description [Variation Report for NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)]

NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
HGVS:
  • NC_000010.11:g.49470676G>C
  • NG_009442.1:g.73426C>G
  • NM_000124.4:c.3284C>GMANE SELECT
  • NM_001346440.2:c.3284C>G
  • NP_000115.1:p.Pro1095Arg
  • NP_001333369.1:p.Pro1095Arg
  • LRG_465t1:c.3284C>G
  • LRG_465:g.73426C>G
  • NC_000010.10:g.50678722G>C
  • NM_000124.2:c.3284C>G
  • NM_000124.3:c.3284C>G
  • Q03468:p.Pro1095Arg
Protein change:
P1095R; PRO1095ARG
Links:
UniProtKB: Q03468#VAR_001222; OMIM: 609413.0008; dbSNP: rs4253208
NCBI 1000 Genomes Browser:
rs4253208
Molecular consequence:
  • NM_000124.4:c.3284C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.3284C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cockayne syndrome type 2
Synonyms:
Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021932OMIM
no assertion criteria provided
Uncertain significance
(Jan 1, 1998)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Hamosh, A. Personal Communication. 2016. Baltimore, Md.,

SCV000362801Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, et al.

Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.

PubMed [citation]
PMID:
19894250

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.

Am J Hum Genet. 1998 Jan;62(1):77-85. Erratum in: Am J Hum Genet 1999 May;64(5):1491.

PubMed [citation]
PMID:
9443879
PMCID:
PMC1376810
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000021932.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant, formerly designated COCKAYNE SYNDROME B, has been reclassified based on a review of the ExAC database by Hamosh (2016).

In a rare example of a black patient with Cockayne syndrome (CSB; 133540), Mallery et al. (1998) identified compound heterozygosity for 2 mutations in the ERCC6 gene: a 1-bp deletion (1597delG; 609413.0003) in the center of a 12-bp inverted repeat, and a 3363G-C transversion, resulting in a pro1095-to-arg (P1095R) substitution.

Hamosh (2016) noted that the P1095R variant in the ExAC database (December 7, 2016) has a high allele frequency (0.04192) in the African population and has been found in homozygosity in 10 Africans, suggesting that the variant is not pathogenic.

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

From Illumina Laboratory Services, Illumina, SCV000362801.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Jul 15, 2024