NM_001370658.1(BTD):c.48C>T (p.Tyr16=) AND Biotinidase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Dec 14, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000346716.15

Allele description

NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

HGVS:

NC_000003.12:g.15635487C>T
NG_008019.2:g.39136C>T
NG_008019.3:g.39137C>T
NM_000060.4:c.108C>T
NM_001281723.4:c.48C>T
NM_001281724.3:c.48C>T
NM_001281725.3:c.48C>T
NM_001281726.3:c.48C>T
NM_001323582.2:c.48C>T
NM_001370658.1:c.48C>TMANE SELECT
NM_001370752.1:c.48C>T
NM_001370753.1:c.48C>T
NM_001407364.1:c.48C>T
NM_001407365.1:c.48C>T
NM_001407366.1:c.48C>T
NM_001407367.1:c.48C>T
NM_001407368.1:c.48C>T
NM_001407369.1:c.48C>T
NM_001407370.1:c.48C>T
NM_001407371.1:c.48C>T
NM_001407372.1:c.48C>T
NM_001407373.1:c.48C>T
NM_001407374.1:c.48C>T
NM_001407375.1:c.48C>T
NM_001407376.1:c.48C>T
NM_001407377.1:c.48C>T
NM_001407378.1:c.48C>T
NM_001407379.1:c.48C>T
NM_001407380.1:c.48C>T
NM_001407381.1:c.48C>T
NM_001407382.1:c.48C>T
NM_001407383.1:c.48C>T
NM_001407384.1:c.48C>T
NM_001407386.1:c.48C>T
NM_001407388.1:c.48C>T
NM_001407390.1:c.48C>T
NM_001407392.1:c.48C>T
NM_001407394.1:c.48C>T
NM_001407395.1:c.48C>T
NM_001407396.1:c.48C>T
NM_001407397.1:c.48C>T
NM_001407398.1:c.48C>T
NM_001407399.1:c.48C>T
NM_001407400.1:c.48C>T
NM_001407401.1:c.48C>T
NP_000051.1:p.Tyr36=
NP_001268652.2:p.Tyr16=
NP_001268653.2:p.Tyr16=
NP_001268654.1:p.Tyr16=
NP_001268655.2:p.Tyr16=
NP_001310511.1:p.Tyr16=
NP_001357587.1:p.Tyr16=
NP_001357681.1:p.Tyr16=
NP_001357682.1:p.Tyr16=
NP_001394293.1:p.Tyr16=
NP_001394294.1:p.Tyr16=
NP_001394295.1:p.Tyr16=
NP_001394296.1:p.Tyr16=
NP_001394297.1:p.Tyr16=
NP_001394298.1:p.Tyr16=
NP_001394299.1:p.Tyr16=
NP_001394300.1:p.Tyr16=
NP_001394301.1:p.Tyr16=
NP_001394302.1:p.Tyr16=
NP_001394303.1:p.Tyr16=
NP_001394304.1:p.Tyr16=
NP_001394305.1:p.Tyr16=
NP_001394306.1:p.Tyr16=
NP_001394307.1:p.Tyr16=
NP_001394308.1:p.Tyr16=
NP_001394309.1:p.Tyr16=
NP_001394310.1:p.Tyr16=
NP_001394311.1:p.Tyr16=
NP_001394312.1:p.Tyr16=
NP_001394313.1:p.Tyr16=
NP_001394315.1:p.Tyr16=
NP_001394317.1:p.Tyr16=
NP_001394319.1:p.Tyr16=
NP_001394321.1:p.Tyr16=
NP_001394323.1:p.Tyr16=
NP_001394324.1:p.Tyr16=
NP_001394325.1:p.Tyr16=
NP_001394326.1:p.Tyr16=
NP_001394327.1:p.Tyr16=
NP_001394328.1:p.Tyr16=
NP_001394329.1:p.Tyr16=
NP_001394330.1:p.Tyr16=
NC_000003.11:g.15676994C>T

Links:

dbSNP: rs201823743

NCBI 1000 Genomes Browser:

rs201823743

Molecular consequence:

NM_000060.4:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281723.4:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281724.3:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281725.3:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001281726.3:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001323582.2:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370658.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370752.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370753.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407364.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407365.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407366.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407367.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407368.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407369.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407370.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407371.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407372.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407373.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407374.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407375.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407376.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407377.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407378.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407379.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407380.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407381.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407382.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407383.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407384.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407386.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407388.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407390.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407392.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407394.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407395.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407396.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407397.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407398.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407399.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407400.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407401.1:c.48C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Biotinidase deficiency
Synonyms:: BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:: MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

Recent activity

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Gambusia rhizophorae genomic DNA containing COII-tRNAlys region
Gambusia rhizophorae genomic DNA containing COII-tRNAlys region
gi|1794743411|emb|LR597214.1|

Nucleotide
ribosome biogenesis protein SLX9 homolog isoform X1 [Homo sapiens]
ribosome biogenesis protein SLX9 homolog isoform X1 [Homo sapiens]
gi|1034627642|ref|XP_016883971.1|

Protein
AL639069 XGC-gastrula Xenopus tropicalis cDNA clone L1G12a05 5', mRNA sequence
AL639069 XGC-gastrula Xenopus tropicalis cDNA clone L1G12a05 5', mRNA sequence
gi|16791200|gnl|dbEST|10146828|emb| 069.1|

Nucleotide
Bacillus anthracis str. 'Ames Ancestor'
Bacillus anthracis str. 'Ames Ancestor'
Endospore-forming bacteria that causes anthrax and is gold standard for comparative genomics

BioProject
EVC [Molothrus aeneus]
EVC [Molothrus aeneus]
Gene ID:136555704

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000441822	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV001630595	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002081543	Natera, Inc.	no assertion criteria provided	Likely benign (Jun 15, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000441822

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001630595

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 14, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002081543

Natera, Inc.

no assertion criteria provided

Likely benign
(Jun 15, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000441822.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV001630595.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002081543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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