Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001370658.1(BTD):c.-17+1G>A

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Sep 2, 2016
Accession:
VCV000370376.1
Variation ID:
370376
Description:
single nucleotide variant
Help

NM_001370658.1(BTD):c.-17+1G>A

Allele ID
357291
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15601895 (GRCh38) GRCh38 UCSC
3: 15643402 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.15601895G>A
NC_000003.11:g.15643402G>A
NM_001370658.1:c.-17+1G>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:15601894:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16040905
dbSNP: rs1057516440
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 2, 2016 RCV000409752.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2016)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000485680.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Sep 02, 2016)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712499.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The c.44+1G>A variant in BTD has not been previously reported in patients with b iotinidase deficiency and was absent from large population studies. This variant … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report. Murry JB Cold Spring Harbor molecular case studies 2018 PMID: 29728376
Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase. Stanley CM Molecular genetics and metabolism 2004 PMID: 15059618

Text-mined citations for rs1057516440...

Help
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 Jul 07, 2021