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NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs) AND Cockayne syndrome type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 15, 2022
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:
RCV002307034.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)]

NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)

Genes:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
Variant type:
Insertion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
HGVS:
  • NC_000010.11:g.49524215_49524216insAAGAAAGTGCCAG
  • NG_009442.1:g.19886_19887insCTGGCACTTTCTT
  • NG_033155.1:g.5066_5067insCTGGCACTTTCTT
  • NM_000124.4:c.1214_1215insCTGGCACTTTCTTMANE SELECT
  • NM_001277058.2:c.1214_1215insCTGGCACTTTCTT
  • NM_001277059.2:c.1214_1215insCTGGCACTTTCTT
  • NM_001346440.2:c.1214_1215insCTGGCACTTTCTT
  • NM_170753.3:c.-191_-190insCTGGCACTTTCTT
  • NP_000115.1:p.Lys405Asnfs
  • NP_000115.1:p.Lys405fs
  • NP_001263987.1:p.Lys405fs
  • NP_001263988.1:p.Lys405fs
  • NP_001333369.1:p.Lys405fs
  • LRG_465t1:c.1214_1215insCTGGCACTTTCTT
  • LRG_465:g.19886_19887insCTGGCACTTTCTT
  • LRG_465p1:p.Lys405Asnfs
  • NC_000010.10:g.50732261_50732262insAAGAAAGTGCCAG
  • NM_000124.2:c.1214_1215insCTGGCACTTTCTT
Protein change:
K405fs
Molecular consequence:
  • NM_170753.3:c.-191_-190insCTGGCACTTTCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000124.4:c.1214_1215insCTGGCACTTTCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277058.2:c.1214_1215insCTGGCACTTTCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277059.2:c.1214_1215insCTGGCACTTTCTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.2:c.1214_1215insCTGGCACTTTCTT - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002604131Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(May 15, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002604131.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000124.2(ERCC6):c.1214_1215ins13(K405Nfs*23) is expected to be pathogenic in the context of ERCC6-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 ERCC6, 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.

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

Last Updated: Sep 1, 2024