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NM_001370658.1(BTD):c.1312dup (p.Cys438fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 10, 2017)
Last evaluated:
Feb 17, 2017
Accession:
VCV000156005.1
Variation ID:
156005
Description:
1bp duplication
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NM_001370658.1(BTD):c.1312dup (p.Cys438fs)

Allele ID
165809
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15645227-15645228 (GRCh38) GRCh38 UCSC
3: 15686734-15686735 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.15686735dup
NC_000003.12:g.15645228dup
NG_008019.1:g.48481dup
... more HGVS
Protein change
C438fs
Other names
-
Canonical SPDI
NC_000003.12:15645227:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278443
dbSNP: rs587783007
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Feb 17, 2017 RCV000144062.2
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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
(-)
no assertion criteria provided
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories
Accession: SCV000189135.1
Submitted: (Aug 13, 2014)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 17, 2017)
no assertion criteria provided
Method: literature only
Biotinidase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV000845831.1
Submitted: (Mar 10, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Enzyme activity @ 2.0 U/L. Seen with c.968A>G;p.H323R.

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
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Li H Molecular genetics and metabolism 2014 PMID: 24797656

Text-mined citations for rs587783007...

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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