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NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV000494454.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs)]

NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs)
HGVS:
  • NC_000010.11:g.49471093_49471096del
  • NG_009442.1:g.73007_73010del
  • NM_000124.4:c.2950_2953delMANE SELECT
  • NM_001346440.2:c.2950_2953del
  • NP_000115.1:p.Asn984fs
  • NP_001333369.1:p.Asn984fs
  • LRG_465t1:c.2950_2953del
  • LRG_465:g.73007_73010del
  • NC_000010.10:g.50679139_50679142del
  • NM_000124.2:c.2950_2953delAATA
Protein change:
N984fs
Links:
dbSNP: rs747651923
NCBI 1000 Genomes Browser:
rs747651923
Molecular consequence:
  • NM_000124.4:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.2:c.2950_2953del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582695GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 20, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582695.4

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

Description

The c.2950_2953delAATA variant in the ERCC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2950_2953delAATA variant causes a frameshift starting with codon Asparagine 98, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Asn984GlufsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2950_2953delAATA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2950_2953delAATA as a pathogenic variant.

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

Last Updated: Apr 23, 2022