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NM_001370658.1(BTD):c.1399del (p.Trp467fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 10, 2017)
Last evaluated:
Feb 17, 2017
Accession:
VCV000025092.1
Variation ID:
25092
Description:
1bp deletion
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NM_001370658.1(BTD):c.1399del (p.Trp467fs)

Allele ID
36426
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15645315 (GRCh38) GRCh38 UCSC
3: 15686822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.15686822del
NC_000003.12:g.15645315del
NG_008019.1:g.48568del
... more HGVS
Protein change
W467fs
Other names
L486fs
Canonical SPDI
NC_000003.12:15645314:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA278346
dbSNP: rs397514423
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Feb 17, 2017 RCV000022017.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BTD - - GRCh38
GRCh37
427 464

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 17, 2017)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV000042689.2
Submitted: (Mar 10, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Enzyme activity @ 3.3 U/L w/no paired control. Seen with c.356A>G,p.N119S.
Likely pathogenic
(May 10, 2016)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000486309.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Forty-eight novel mutations causing biotinidase deficiency. Procter M Molecular genetics and metabolism 2016 PMID: 26810761
Procter et al, unpublished - - - -

Text-mined citations for rs397514423...

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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 08, 2021