VCV000004672.1 - ClinVar

NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)

Variation ID: 4672 Accession: VCV000004672.1

Type and length

Deletion, -

Location

Cytogenetic: 10p -

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Sep 17, 2016	Sep 17, 2016	Apr 20, 2001

HGVS

Nucleotide	Protein	Molecular consequence
NC_000010.11:g.(14932956_14934379)_(14936594_14939809)del
NG_007276.1:g.(19287_22502)_(24717_26140)del
LRG_54:g.(19287_22502)_(24717_26140)del

Protein change

Other names

EX5-8DEL

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

OMIM: 605988.0008

Comment on variant

NCBI staff provided HGVS expressions for allelic variant 605988.0003 from the alignments of AJ296101.1, cited by the paper by Moshous et al., 2001 (PubMed 11336668), to current RefSeq genomic sequences.

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
DCLRE1C		-	-	GRCh38 GRCh37	1056	1105

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Severe combined immunodeficiency due to DCLRE1C deficiency	Pathogenic (1)	no assertion criteria provided	Apr 20, 2001	RCV000004936.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Apr 20, 2001)	no assertion criteria provided Method: literature only	SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION Affected status: not provided Allele origin: germline	OMIM Accession: SCV000025112.3 First in ClinVar: Apr 04, 2013 Last updated: Sep 17, 2016	Publications: PubMed (1) PubMed: 11336668 Comment on evidence: In a patient (P47) with severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID; 602450), Moshous et al. (2001) identified a deletion of exons 5 … (more) In a patient (P47) with severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID; 602450), Moshous et al. (2001) identified a deletion of exons 5 to 8 of the Artemis gene, resulting in an in-frame splicing of exons 4 to 9 and potentially leading to a protein that lacks lys96 to gln219. This patient was homozygous for the mutation. (less)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.	Moshous D	Cell	2001	PMID: 11336668

Text-mined citations for this variant ...

Record last updated Jan 15, 2023

ClinVar Genomic variation as it relates to human health

NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...