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NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Mar 16, 2018
Accession:
VCV000557291.1
Variation ID:
557291
Description:
4bp indel
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NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)

Allele ID
543042
Variant type
Indel
Variant length
4 bp
Cytogenetic location
3p25.1
Genomic location
3: 15644505-15644507 (GRCh38) GRCh38 UCSC
3: 15686012-15686014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.15686012_15686014delinsAGTA
NC_000003.12:g.15644505_15644507delinsAGTA
NG_008019.1:g.47758_47760delinsAGTA
... more HGVS
Protein change
F197fs
Other names
-
Canonical SPDI
NC_000003.12:15644504:TTT:AGTA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553653732
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 Mar 16, 2018 RCV000673413.1
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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
(Mar 16, 2018)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000798613.1
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 rs1553653732...

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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