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NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) AND Cockayne syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2020
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:
RCV001261852.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro)]

NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro)
HGVS:
  • NC_000010.11:g.49470478_49470479delinsGG
  • NG_009442.1:g.73623_73624delinsCC
  • NM_000124.4:c.3481_3482delinsCCMANE SELECT
  • NM_001346440.2:c.3481_3482delinsCC
  • NP_000115.1:p.Ser1161Pro
  • NP_001333369.1:p.Ser1161Pro
  • LRG_465:g.73623_73624delinsCC
  • NC_000010.10:g.50678524_50678525delinsGG
  • NM_000124.3:c.3481_3482delinsCC
  • NM_000124.4:c.3481_3482delAGinsCCMANE SELECT
Protein change:
S1161P
Links:
dbSNP: rs1590405627
NCBI 1000 Genomes Browser:
rs1590405627
Molecular consequence:
  • NM_000124.4:c.3481_3482delinsCC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.3481_3482delinsCC - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001439192St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Aug 19, 2020) 		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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV001439192.1

#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: Sep 29, 2024