NM_001370658.1(BTD):c.251A>G (p.Asp84Gly) AND Biotinidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2022
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:: RCV002775298.2

Allele description [Variation Report for NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)]

NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)

HGVS:

NC_000003.12:g.15641909A>G
NG_008019.2:g.45558A>G
NG_008019.3:g.45559A>G
NM_000060.4:c.311A>G
NM_001281723.4:c.251A>G
NM_001281724.3:c.251A>G
NM_001281725.3:c.251A>G
NM_001281726.3:c.251A>G
NM_001323582.2:c.251A>G
NM_001370658.1:c.251A>GMANE SELECT
NM_001370752.1:c.251A>G
NM_001370753.1:c.251A>G
NM_001407364.1:c.251A>G
NM_001407365.1:c.251A>G
NM_001407366.1:c.251A>G
NM_001407367.1:c.251A>G
NM_001407368.1:c.251A>G
NM_001407369.1:c.251A>G
NM_001407370.1:c.251A>G
NM_001407371.1:c.251A>G
NM_001407372.1:c.251A>G
NM_001407373.1:c.251A>G
NM_001407374.1:c.251A>G
NM_001407375.1:c.251A>G
NM_001407376.1:c.251A>G
NM_001407377.1:c.251A>G
NM_001407378.1:c.251A>G
NM_001407379.1:c.251A>G
NM_001407380.1:c.251A>G
NM_001407381.1:c.314A>G
NM_001407382.1:c.251A>G
NM_001407383.1:c.251A>G
NM_001407384.1:c.251A>G
NM_001407386.1:c.251A>G
NM_001407388.1:c.251A>G
NM_001407390.1:c.251A>G
NM_001407392.1:c.251A>G
NM_001407394.1:c.251A>G
NM_001407395.1:c.251A>G
NM_001407396.1:c.251A>G
NM_001407397.1:c.251A>G
NM_001407398.1:c.251A>G
NM_001407399.1:c.251A>G
NM_001407400.1:c.251A>G
NM_001407401.1:c.251A>G
NP_000051.1:p.Asp104Gly
NP_001268652.2:p.Asp84Gly
NP_001268652.2:p.Asp84Gly
NP_001268653.2:p.Asp84Gly
NP_001268654.1:p.Asp84Gly
NP_001268654.1:p.Asp84Gly
NP_001268655.2:p.Asp84Gly
NP_001268655.2:p.Asp84Gly
NP_001310511.1:p.Asp84Gly
NP_001310511.1:p.Asp84Gly
NP_001357587.1:p.Asp84Gly
NP_001357681.1:p.Asp84Gly
NP_001357682.1:p.Asp84Gly
NP_001394293.1:p.Asp84Gly
NP_001394294.1:p.Asp84Gly
NP_001394295.1:p.Asp84Gly
NP_001394296.1:p.Asp84Gly
NP_001394297.1:p.Asp84Gly
NP_001394298.1:p.Asp84Gly
NP_001394299.1:p.Asp84Gly
NP_001394300.1:p.Asp84Gly
NP_001394301.1:p.Asp84Gly
NP_001394302.1:p.Asp84Gly
NP_001394303.1:p.Asp84Gly
NP_001394304.1:p.Asp84Gly
NP_001394305.1:p.Asp84Gly
NP_001394306.1:p.Asp84Gly
NP_001394307.1:p.Asp84Gly
NP_001394308.1:p.Asp84Gly
NP_001394309.1:p.Asp84Gly
NP_001394310.1:p.Asp105Gly
NP_001394311.1:p.Asp84Gly
NP_001394312.1:p.Asp84Gly
NP_001394313.1:p.Asp84Gly
NP_001394315.1:p.Asp84Gly
NP_001394317.1:p.Asp84Gly
NP_001394319.1:p.Asp84Gly
NP_001394321.1:p.Asp84Gly
NP_001394323.1:p.Asp84Gly
NP_001394324.1:p.Asp84Gly
NP_001394325.1:p.Asp84Gly
NP_001394326.1:p.Asp84Gly
NP_001394327.1:p.Asp84Gly
NP_001394328.1:p.Asp84Gly
NP_001394329.1:p.Asp84Gly
NP_001394330.1:p.Asp84Gly
NC_000003.11:g.15683416A>G
NM_001281723.3:c.251A>G
NM_001281725.2:c.251A>G
NM_001281726.2:c.251A>G
NM_001323582.1:c.251A>G

Protein change:

D104G

Molecular consequence:

NM_000060.4:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281726.3:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370753.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407380.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407381.1:c.314A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407382.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407383.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407384.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407386.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407388.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407390.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407392.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407394.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407395.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407396.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407397.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407398.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407399.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407400.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407401.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Mus musculus RIKEN cDNA 2010107G23 gene (2010107G23Rik), mRNA
Mus musculus RIKEN cDNA 2010107G23 gene (2010107G23Rik), mRNA
gi|31560106|ref|NM_027251.2|

Nucleotide
L-lactate dehydrogenase A chain isoform 3 [Homo sapiens]
L-lactate dehydrogenase A chain isoform 3 [Homo sapiens]
gi|260099723|ref|NP_001158886.1|

Protein
Mus musculus mediator of RNA polymerase II transcription, subunit 11 homolog (S....
Mus musculus mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae), mRNA (cDNA clone MGC:35762 IMAGE:4238297), complete cds
gi|19263526|gb|BC025057.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003021756	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003021756

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 18, 2022)

germline

clinical testing

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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003021756.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 104 of the BTD protein (p.Asp104Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BTD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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