NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) AND Cockayne syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000287947.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)]

NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)

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.3289A>G (p.Met1097Val)
HGVS:
  • NC_000010.11:g.49470671T>C
  • NG_009442.1:g.73431A>G
  • NM_000124.4:c.3289A>GMANE SELECT
  • NM_001346440.2:c.3289A>G
  • NP_000115.1:p.Met1097Val
  • NP_001333369.1:p.Met1097Val
  • LRG_465t1:c.3289A>G
  • LRG_465:g.73431A>G
  • NC_000010.10:g.50678717T>C
  • NM_000124.2:c.3289A>G
  • NM_000124.3:c.3289A>G
  • Q03468:p.Met1097Val
Protein change:
M1097V
Links:
UniProtKB: Q03468#VAR_001223; dbSNP: rs2228526
NCBI 1000 Genomes Browser:
rs2228526
Molecular consequence:
  • NM_000124.4:c.3289A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.3289A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cockayne syndrome
Synonyms:
Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016006; MedGen: C0009207

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000362799Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000362799.2

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

Last Updated: Nov 20, 2021

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