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NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003155434.1

Allele description [Variation Report for NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)]

NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
Other names:
L85del
HGVS:
  • NC_000003.12:g.15635626_15635634del
  • NG_008019.2:g.39275_39283del
  • NG_008019.3:g.39276_39284del
  • NM_001281723.4:c.187_195del
  • NM_001281724.3:c.187_195del
  • NM_001281725.3:c.187_195del
  • NM_001281726.3:c.187_195del
  • NM_001323582.2:c.187_195del
  • NM_001370658.1:c.187_195delMANE SELECT
  • NM_001370752.1:c.187_195del
  • NM_001370753.1:c.187_195del
  • NM_001407364.1:c.187_195del
  • NM_001407365.1:c.187_195del
  • NM_001407366.1:c.187_195del
  • NM_001407367.1:c.187_195del
  • NM_001407368.1:c.187_195del
  • NM_001407369.1:c.187_195del
  • NM_001407370.1:c.187_195del
  • NM_001407371.1:c.187_195del
  • NM_001407372.1:c.187_195del
  • NM_001407373.1:c.187_195del
  • NM_001407374.1:c.187_195del
  • NM_001407375.1:c.187_195del
  • NM_001407376.1:c.187_195del
  • NM_001407377.1:c.187_195del
  • NM_001407378.1:c.187_195del
  • NM_001407379.1:c.187_195del
  • NM_001407380.1:c.187_195del
  • NM_001407381.1:c.187_195del
  • NM_001407382.1:c.187_195del
  • NM_001407383.1:c.187_195del
  • NM_001407384.1:c.187_195del
  • NM_001407386.1:c.187_195del
  • NM_001407388.1:c.187_195del
  • NM_001407390.1:c.187_195del
  • NM_001407392.1:c.187_195del
  • NM_001407394.1:c.187_195del
  • NM_001407395.1:c.187_195del
  • NM_001407396.1:c.187_195del
  • NM_001407397.1:c.187_195del
  • NM_001407398.1:c.187_195del
  • NM_001407399.1:c.187_195del
  • NM_001407400.1:c.187_195del
  • NM_001407401.1:c.187_195del
  • NP_001268652.2:p.Leu63_Leu65del
  • NP_001268653.2:p.Leu63_Leu65del
  • NP_001268654.1:p.Leu63_Leu65del
  • NP_001268655.2:p.Leu63_Leu65del
  • NP_001310511.1:p.Leu63_Leu65del
  • NP_001357587.1:p.Leu63_Leu65del
  • NP_001357681.1:p.Leu63_Leu65del
  • NP_001357682.1:p.Leu63_Leu65del
  • NP_001394293.1:p.Leu63_Leu65del
  • NP_001394294.1:p.Leu63_Leu65del
  • NP_001394295.1:p.Leu63_Leu65del
  • NP_001394296.1:p.Leu63_Leu65del
  • NP_001394297.1:p.Leu63_Leu65del
  • NP_001394298.1:p.Leu63_Leu65del
  • NP_001394299.1:p.Leu63_Leu65del
  • NP_001394300.1:p.Leu63_Leu65del
  • NP_001394301.1:p.Leu63_Leu65del
  • NP_001394302.1:p.Leu63_Leu65del
  • NP_001394303.1:p.Leu63_Leu65del
  • NP_001394304.1:p.Leu63_Leu65del
  • NP_001394305.1:p.Leu63_Leu65del
  • NP_001394306.1:p.Leu63_Leu65del
  • NP_001394307.1:p.Leu63_Leu65del
  • NP_001394308.1:p.Leu63_Leu65del
  • NP_001394309.1:p.Leu63_Leu65del
  • NP_001394310.1:p.Leu63_Leu65del
  • NP_001394311.1:p.Leu63_Leu65del
  • NP_001394312.1:p.Leu63_Leu65del
  • NP_001394313.1:p.Leu63_Leu65del
  • NP_001394315.1:p.Leu63_Leu65del
  • NP_001394317.1:p.Leu63_Leu65del
  • NP_001394319.1:p.Leu63_Leu65del
  • NP_001394321.1:p.Leu63_Leu65del
  • NP_001394323.1:p.Leu63_Leu65del
  • NP_001394324.1:p.Leu63_Leu65del
  • NP_001394325.1:p.Leu63_Leu65del
  • NP_001394326.1:p.Leu63_Leu65del
  • NP_001394327.1:p.Leu63_Leu65del
  • NP_001394328.1:p.Leu63_Leu65del
  • NP_001394329.1:p.Leu63_Leu65del
  • NP_001394330.1:p.Leu63_Leu65del
  • NC_000003.11:g.15677132_15677140del
  • NC_000003.11:g.15677133_15677141del
  • NM_000060.3:c.246_254del
  • NM_001370658.1:c.187_195delTTGGAGCTCMANE SELECT
Links:
dbSNP: rs397514346
NCBI 1000 Genomes Browser:
rs397514346
Molecular consequence:
  • NM_001281723.4:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281724.3:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281725.3:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281726.3:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001323582.2:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370658.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370752.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370753.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407364.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407365.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407366.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407367.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407368.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407369.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407370.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407371.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407372.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407373.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407374.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407375.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407376.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407377.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407378.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407379.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407380.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407381.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407382.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407383.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407384.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407386.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407388.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407390.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407392.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407394.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407395.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407396.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407397.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407398.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407399.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407400.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407401.1:c.187_195del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844449Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 8, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

Norrgard KJ, Pomponio RJ, Hymes J, Wolf B.

Pediatr Res. 1999 Jul;46(1):20-7.

PubMed [citation]
PMID:
10400129

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B.

Pediatr Res. 1997 Dec;42(6):840-8.

PubMed [citation]
PMID:
9396567

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: BTD c.187_195delTTGGAGCTC (p.Leu63_Leu65del) results in an in-frame deletion that is predicted to remove three amino acids from the encoded protein. The variant was absent in 251408 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.187_195delTTGGAGCTC has been reported in the literature in at least one individual affected with Biotinidase Deficiency (e.g., Pomponio_1997, Norrgard_1999). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2025