VCV000801943.2 - ClinVar

NM_001370658.1(BTD):c.203del (p.Gln68fs)

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_001370658.1(BTD):c.203del (p.Gln68fs)

Variation ID: 801943 Accession: VCV000801943.2

Type and length

Deletion, 1 bp

Location

Cytogenetic: 3p25.1 3: 15635642 (GRCh38) [ NCBI UCSC ] 3: 15677149 (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	Jan 11, 2020	Jan 11, 2020	May 28, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NM_001370658.1:c.203del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001357587.1:p.Gln68fs	frameshift
NM_000060.4:c.263delA	NP_000051.1:p.Gln88Argfs	frameshift
NM_001281723.4:c.203delA	NP_001268652.2:p.Gln68Argfs	frameshift
NM_001281724.3:c.203del	NP_001268653.2:p.Gln68fs	frameshift
NM_001281725.3:c.203delA	NP_001268654.1:p.Gln68Argfs	frameshift
NM_001281726.3:c.203delA	NP_001268655.2:p.Gln68Argfs	frameshift
NM_001323582.2:c.203delA	NP_001310511.1:p.Gln68Argfs	frameshift
NM_001370752.1:c.203del	NP_001357681.1:p.Gln68fs	frameshift
NM_001370753.1:c.203del	NP_001357682.1:p.Gln68fs	frameshift
NM_001407364.1:c.203delA	NP_001394293.1:p.Gln68Argfs	frameshift
NM_001407365.1:c.203delA	NP_001394294.1:p.Gln68Argfs	frameshift
NM_001407366.1:c.203delA	NP_001394295.1:p.Gln68Argfs	frameshift
NM_001407367.1:c.203delA	NP_001394296.1:p.Gln68Argfs	frameshift
NM_001407368.1:c.203delA	NP_001394297.1:p.Gln68Argfs	frameshift
NM_001407369.1:c.203delA	NP_001394298.1:p.Gln68Argfs	frameshift
NM_001407370.1:c.203delA	NP_001394299.1:p.Gln68Argfs	frameshift
NM_001407371.1:c.203delA	NP_001394300.1:p.Gln68Argfs	frameshift
NM_001407372.1:c.203delA	NP_001394301.1:p.Gln68Argfs	frameshift
NM_001407373.1:c.203delA	NP_001394302.1:p.Gln68Argfs	frameshift
NM_001407374.1:c.203delA	NP_001394303.1:p.Gln68Argfs	frameshift
NM_001407375.1:c.203delA	NP_001394304.1:p.Gln68Argfs	frameshift
NM_001407376.1:c.203delA	NP_001394305.1:p.Gln68Argfs	frameshift
NM_001407377.1:c.203delA	NP_001394306.1:p.Gln68Argfs	frameshift
NM_001407378.1:c.203delA	NP_001394307.1:p.Gln68Argfs	frameshift
NM_001407379.1:c.203delA	NP_001394308.1:p.Gln68Argfs	frameshift
NM_001407380.1:c.203delA	NP_001394309.1:p.Gln68Argfs	frameshift
NM_001407381.1:c.203delA	NP_001394310.1:p.Gln68Argfs	frameshift
NM_001407382.1:c.203delA	NP_001394311.1:p.Gln68Argfs	frameshift
NM_001407383.1:c.203delA	NP_001394312.1:p.Gln68Argfs	frameshift
NM_001407384.1:c.203delA	NP_001394313.1:p.Gln68Argfs	frameshift
NM_001407386.1:c.203delA	NP_001394315.1:p.Gln68Argfs	frameshift
NM_001407388.1:c.203delA	NP_001394317.1:p.Gln68Argfs	frameshift
NM_001407390.1:c.203delA	NP_001394319.1:p.Gln68Argfs	frameshift
NM_001407392.1:c.203delA	NP_001394321.1:p.Gln68Argfs	frameshift
NM_001407394.1:c.203delA	NP_001394323.1:p.Gln68Argfs	frameshift
NM_001407395.1:c.203delA	NP_001394324.1:p.Gln68Argfs	frameshift
NM_001407396.1:c.203delA	NP_001394325.1:p.Gln68Argfs	frameshift
NM_001407397.1:c.203delA	NP_001394326.1:p.Gln68Argfs	frameshift
NM_001407398.1:c.203delA	NP_001394327.1:p.Gln68Argfs	frameshift
NM_001407399.1:c.203delA	NP_001394328.1:p.Gln68Argfs	frameshift
NM_001407400.1:c.203delA	NP_001394329.1:p.Gln68Argfs	frameshift
NM_001407401.1:c.203delA	NP_001394330.1:p.Gln68Argfs	frameshift
NC_000003.12:g.15635642del
NC_000003.11:g.15677149del
NG_008019.2:g.39291del

... more HGVS ... less HGVS

Protein change

Q68fs

Other names

Canonical SPDI

NC_000003.12:15635641:A:

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

dbSNP: rs1575013953 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.
BTD		-	-	GRCh38 GRCh37	-	-

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.
Biotinidase deficiency	Pathogenic (1)	criteria provided, single submitter	May 28, 2019	RCV000987129.2

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 (May 28, 2019)	criteria provided, single submitter (Mendelics Assertion Criteria 2017) Method: clinical testing	Biotinidase deficiency Affected status: unknown Allele origin: unknown	Mendelics Accession: SCV001136337.1 First in ClinVar: Jan 11, 2020 Last updated: Jan 11, 2020

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 rs1575013953 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 26, 2023

ClinVar Genomic variation as it relates to human health

NM_001370658.1(BTD):c.203del (p.Gln68fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1575013953 ...