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NM_001370658.1(BTD):c.58_59del (p.Leu20fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jan 3, 2017
Accession:
VCV000550208.1
Variation ID:
550208
Description:
2bp deletion
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NM_001370658.1(BTD):c.58_59del (p.Leu20fs)

Allele ID
543128
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
3p25.1
Genomic location
3: 15635497-15635498 (GRCh38) GRCh38 UCSC
3: 15677004-15677005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.15677004_15677005del
NC_000003.12:g.15635497_15635498del
NG_008019.1:g.38750_38751del
... more HGVS
Protein change
L40fs, L20fs
Other names
-
Canonical SPDI
NC_000003.12:15635496:CT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553652080
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 3, 2017 RCV000664888.1
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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
Likely pathogenic
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000788915.1
Submitted: (Jul 10, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1553652080...

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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