VCV002678268.1 - ClinVar

NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)

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

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)

Variation ID: 2678268 Accession: VCV002678268.1

Type and length

Duplication, 17 bp

Location

Cytogenetic: 6q15 6: 87529577-87529578 (GRCh38) [ NCBI UCSC ] 6: 88239295-88239296 (GRCh37) [ NCBI UCSC ]

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	Dec 30, 2023	Dec 30, 2023	Dec 4, 2022

HGVS

Nucleotide	Protein	Molecular consequence
NM_020320.5:c.826_842dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_064716.2:p.Lys281delinsAsnLeuLysArgSerTer	nonsense
NM_001318785.2:c.301_317dup	NP_001305714.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350505.2:c.826_842dup	NP_001337434.1:p.Lys281delinsAsnLeuLysArgSerTer	nonsense
NM_001350506.2:c.301_317dup	NP_001337435.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350507.2:c.301_317dup	NP_001337436.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350508.2:c.301_317dup	NP_001337437.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350509.2:c.301_317dup	NP_001337438.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350510.2:c.301_317dup	NP_001337439.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NM_001350511.2:c.301_317dup	NP_001337440.1:p.Lys106delinsAsnLeuLysArgSerTer	nonsense
NR_134857.2:n.856_872dup		non-coding transcript variant
NR_146738.2:n.1124_1140dup		non-coding transcript variant
NR_146739.2:n.937_953dup		non-coding transcript variant
NR_146740.2:n.1201_1217dup		non-coding transcript variant
NR_146741.2:n.863_879dup		non-coding transcript variant
NR_146742.2:n.1239_1255dup		non-coding transcript variant
NR_146743.2:n.1077_1093dup		non-coding transcript variant
NR_146744.2:n.1201_1217dup		non-coding transcript variant
NR_146745.2:n.860_876dup		non-coding transcript variant
NR_146746.2:n.1295_1311dup		non-coding transcript variant
NR_146747.2:n.639_655dup		non-coding transcript variant
NR_146748.2:n.1077_1093dup		non-coding transcript variant
NR_146749.2:n.1077_1093dup		non-coding transcript variant
NR_146750.2:n.1201_1217dup		non-coding transcript variant
NR_146751.2:n.1077_1093dup		non-coding transcript variant
NR_146752.2:n.1145_1161dup		non-coding transcript variant
NR_146753.2:n.993_1009dup		non-coding transcript variant
NR_146754.2:n.937_953dup		non-coding transcript variant
NR_146755.2:n.1201_1217dup		non-coding transcript variant
NR_146756.2:n.856_872dup		non-coding transcript variant
NR_146757.2:n.1127_1143dup		non-coding transcript variant
NR_146758.2:n.860_876dup		non-coding transcript variant
NR_146759.2:n.860_876dup		non-coding transcript variant
NC_000006.12:g.87529581_87529597dup
NC_000006.11:g.88239299_88239315dup
NG_008601.1:g.65424_65440dup

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000006.12:87529577:TTTAAGACCTCTTGAGATTT:TTTAAGACCTCTTGAGATTTAAGACCTCTTGAGATTT

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

VarSome

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.
RARS2		-	-	GRCh38 GRCh37	919	955

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.
Pontocerebellar hypoplasia type 6	Pathogenic (1)	criteria provided, single submitter	Dec 4, 2022	RCV003471807.1

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 (Dec 04, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pontocerebellar hypoplasia type 6 Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004208472.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023

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

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Dec 30, 2023

ClinVar Genomic variation as it relates to human health

NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...