VCV000343905.23 - ClinVar

NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

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.

(4)

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.

Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)

criteria provided, conflicting classifications

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

Variation ID: 343905 Accession: VCV000343905.23

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 3p25.1 3: 15635487 (GRCh38) [ NCBI UCSC ] 3: 15676994 (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 6, 2016	Oct 20, 2024	Dec 14, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_001370658.1:c.48C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001357587.1:p.Tyr16=	synonymous
NM_000060.4:c.108C>T	NP_000051.1:p.Tyr36=	synonymous
NM_001281723.4:c.48C>T	NP_001268652.2:p.Tyr16=	synonymous
NM_001281724.3:c.48C>T	NP_001268653.2:p.Tyr16=	synonymous
NM_001281725.3:c.48C>T	NP_001268654.1:p.Tyr16=	synonymous
NM_001281726.3:c.48C>T	NP_001268655.2:p.Tyr16=	synonymous
NM_001323582.2:c.48C>T	NP_001310511.1:p.Tyr16=	synonymous
NM_001370752.1:c.48C>T	NP_001357681.1:p.Tyr16=	synonymous
NM_001370753.1:c.48C>T	NP_001357682.1:p.Tyr16=	synonymous
NM_001407364.1:c.48C>T	NP_001394293.1:p.Tyr16=	synonymous
NM_001407365.1:c.48C>T	NP_001394294.1:p.Tyr16=	synonymous
NM_001407366.1:c.48C>T	NP_001394295.1:p.Tyr16=	synonymous
NM_001407367.1:c.48C>T	NP_001394296.1:p.Tyr16=	synonymous
NM_001407368.1:c.48C>T	NP_001394297.1:p.Tyr16=	synonymous
NM_001407369.1:c.48C>T	NP_001394298.1:p.Tyr16=	synonymous
NM_001407370.1:c.48C>T	NP_001394299.1:p.Tyr16=	synonymous
NM_001407371.1:c.48C>T	NP_001394300.1:p.Tyr16=	synonymous
NM_001407372.1:c.48C>T	NP_001394301.1:p.Tyr16=	synonymous
NM_001407373.1:c.48C>T	NP_001394302.1:p.Tyr16=	synonymous
NM_001407374.1:c.48C>T	NP_001394303.1:p.Tyr16=	synonymous
NM_001407375.1:c.48C>T	NP_001394304.1:p.Tyr16=	synonymous
NM_001407376.1:c.48C>T	NP_001394305.1:p.Tyr16=	synonymous
NM_001407377.1:c.48C>T	NP_001394306.1:p.Tyr16=	synonymous
NM_001407378.1:c.48C>T	NP_001394307.1:p.Tyr16=	synonymous
NM_001407379.1:c.48C>T	NP_001394308.1:p.Tyr16=	synonymous
NM_001407380.1:c.48C>T	NP_001394309.1:p.Tyr16=	synonymous
NM_001407381.1:c.48C>T	NP_001394310.1:p.Tyr16=	synonymous
NM_001407382.1:c.48C>T	NP_001394311.1:p.Tyr16=	synonymous
NM_001407383.1:c.48C>T	NP_001394312.1:p.Tyr16=	synonymous
NM_001407384.1:c.48C>T	NP_001394313.1:p.Tyr16=	synonymous
NM_001407386.1:c.48C>T	NP_001394315.1:p.Tyr16=	synonymous
NM_001407388.1:c.48C>T	NP_001394317.1:p.Tyr16=	synonymous
NM_001407390.1:c.48C>T	NP_001394319.1:p.Tyr16=	synonymous
NM_001407392.1:c.48C>T	NP_001394321.1:p.Tyr16=	synonymous
NM_001407394.1:c.48C>T	NP_001394323.1:p.Tyr16=	synonymous
NM_001407395.1:c.48C>T	NP_001394324.1:p.Tyr16=	synonymous
NM_001407396.1:c.48C>T	NP_001394325.1:p.Tyr16=	synonymous
NM_001407397.1:c.48C>T	NP_001394326.1:p.Tyr16=	synonymous
NM_001407398.1:c.48C>T	NP_001394327.1:p.Tyr16=	synonymous
NM_001407399.1:c.48C>T	NP_001394328.1:p.Tyr16=	synonymous
NM_001407400.1:c.48C>T	NP_001394329.1:p.Tyr16=	synonymous
NM_001407401.1:c.48C>T	NP_001394330.1:p.Tyr16=	synonymous
NC_000003.12:g.15635487C>T
NC_000003.11:g.15676994C>T
NG_008019.2:g.39136C>T
NG_008019.3:g.39137C>T

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000003.12:15635486:C:T

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.

0.00020 (T)

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

Trans-Omics for Precision Medicine (TOPMed) 0.00004

The Genome Aggregation Database (gnomAD) 0.00005

The Genome Aggregation Database (gnomAD), exomes 0.00006

Exome Aggregation Consortium (ExAC) 0.00007

1000 Genomes Project 30x 0.00016

1000 Genomes Project 0.00020

Links

ClinGen: CA2277241 dbSNP: rs201823743 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	670	756

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	Conflicting interpretations of pathogenicity (3)	criteria provided, conflicting classifications	Dec 14, 2023	RCV000346716.16
not provided	Likely benign (1)	criteria provided, single submitter	Dec 1, 2023	RCV003884503.8

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.
Uncertain significance (Jun 14, 2016)	criteria provided, single submitter (ICSL Variant Classification 20161018) Method: clinical testing	Biotinidase Deficiency Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000441822.2 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016
Likely benign (Dec 14, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Biotinidase deficiency Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001630595.3 First in ClinVar: May 23, 2021 Last updated: Feb 14, 2024
Likely benign (Dec 01, 2023)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV004700460.8 First in ClinVar: Mar 10, 2024 Last updated: Oct 20, 2024	Comment: BTD: BP4, BP7 Number of individuals with the variant: 1
Likely benign (Jun 15, 2021)	no assertion criteria provided Method: clinical testing	Biotinidase deficiency Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV002081543.1 First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022

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 rs201823743 ...

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 Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs201823743 ...