NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe) AND Biotinidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 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:: RCV003028222.3

Allele description [Variation Report for NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)]

NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)

HGVS:

NC_000003.12:g.15642009_15642010delinsTT
NG_008019.2:g.45658_45659delinsTT
NG_008019.3:g.45659_45660delinsTT
NM_000060.4:c.411_412delGGinsTT
NM_001281723.4:c.351_352delGGinsTT
NM_001281724.3:c.351_352delinsTT
NM_001281725.3:c.351_352delGGinsTT
NM_001281726.3:c.351_352delGGinsTT
NM_001323582.2:c.351_352delGGinsTT
NM_001370658.1:c.351_352delinsTTMANE SELECT
NM_001370752.1:c.351_352delinsTT
NM_001370753.1:c.351_352delinsTT
NM_001407364.1:c.351_352delGGinsTT
NM_001407365.1:c.351_352delGGinsTT
NM_001407366.1:c.351_352delGGinsTT
NM_001407367.1:c.351_352delGGinsTT
NM_001407368.1:c.351_352delGGinsTT
NM_001407369.1:c.351_352delGGinsTT
NM_001407370.1:c.351_352delGGinsTT
NM_001407371.1:c.351_352delGGinsTT
NM_001407372.1:c.351_352delGGinsTT
NM_001407373.1:c.351_352delGGinsTT
NM_001407374.1:c.351_352delGGinsTT
NM_001407375.1:c.351_352delGGinsTT
NM_001407376.1:c.351_352delGGinsTT
NM_001407377.1:c.351_352delGGinsTT
NM_001407378.1:c.351_352delGGinsTT
NM_001407379.1:c.351_352delGGinsTT
NM_001407380.1:c.351_352delGGinsTT
NM_001407381.1:c.414_415delGGinsTT
NM_001407382.1:c.351_352delGGinsTT
NM_001407383.1:c.351_352delGGinsTT
NM_001407384.1:c.351_352delGGinsTT
NM_001407386.1:c.351_352delGGinsTT
NM_001407388.1:c.351_352delGGinsTT
NM_001407390.1:c.351_352delGGinsTT
NM_001407392.1:c.351_352delGGinsTT
NM_001407394.1:c.351_352delGGinsTT
NM_001407395.1:c.351_352delGGinsTT
NM_001407396.1:c.351_352delGGinsTT
NM_001407397.1:c.351_352delGGinsTT
NM_001407398.1:c.351_352delGGinsTT
NM_001407399.1:c.351_352delGGinsTT
NM_001407400.1:c.351_352delGGinsTT
NM_001407401.1:c.351_352delGGinsTT
NP_000051.1:p.Val138Phe
NP_001268652.2:p.Val118Phe
NP_001268652.2:p.Val118Phe
NP_001268653.2:p.Val118Phe
NP_001268654.1:p.Val118Phe
NP_001268654.1:p.Val118Phe
NP_001268655.2:p.Val118Phe
NP_001268655.2:p.Val118Phe
NP_001310511.1:p.Val118Phe
NP_001310511.1:p.Val118Phe
NP_001357587.1:p.Val118Phe
NP_001357681.1:p.Val118Phe
NP_001357682.1:p.Val118Phe
NP_001394293.1:p.Val118Phe
NP_001394294.1:p.Val118Phe
NP_001394295.1:p.Val118Phe
NP_001394296.1:p.Val118Phe
NP_001394297.1:p.Val118Phe
NP_001394298.1:p.Val118Phe
NP_001394299.1:p.Val118Phe
NP_001394300.1:p.Val118Phe
NP_001394301.1:p.Val118Phe
NP_001394302.1:p.Val118Phe
NP_001394303.1:p.Val118Phe
NP_001394304.1:p.Val118Phe
NP_001394305.1:p.Val118Phe
NP_001394306.1:p.Val118Phe
NP_001394307.1:p.Val118Phe
NP_001394308.1:p.Val118Phe
NP_001394309.1:p.Val118Phe
NP_001394310.1:p.Val139Phe
NP_001394311.1:p.Val118Phe
NP_001394312.1:p.Val118Phe
NP_001394313.1:p.Val118Phe
NP_001394315.1:p.Val118Phe
NP_001394317.1:p.Val118Phe
NP_001394319.1:p.Val118Phe
NP_001394321.1:p.Val118Phe
NP_001394323.1:p.Val118Phe
NP_001394324.1:p.Val118Phe
NP_001394325.1:p.Val118Phe
NP_001394326.1:p.Val118Phe
NP_001394327.1:p.Val118Phe
NP_001394328.1:p.Val118Phe
NP_001394329.1:p.Val118Phe
NP_001394330.1:p.Val118Phe
NC_000003.11:g.15683516_15683517delinsTT
NM_001281723.3:c.351_352delinsTT
NM_001281725.2:c.351_352delinsTT
NM_001281726.2:c.351_352delinsTT
NM_001323582.1:c.351_352delinsTT

Protein change:

V118F

Molecular consequence:

NM_000060.4:c.411_412delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.351_352delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001281726.3:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.351_352delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.351_352delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001370753.1:c.351_352delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407380.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407381.1:c.414_415delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407382.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407383.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407384.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407386.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407388.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407390.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407392.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407394.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407395.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407396.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407397.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407398.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407399.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407400.1:c.351_352delGGinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407401.1:c.351_352delGGinsTT - 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

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Mouse DNA sequence from clone RP23-14N22 on chromosome 2, complete sequence
Mouse DNA sequence from clone RP23-14N22 on chromosome 2, complete sequence
gi|22416230|emb|AL845262.3|

Nucleotide
Homo sapiens potassium large conductance calcium-activated channel, subfamily M,...
Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), RefSeqGene on chromosome 5
gi|224809247|ref|NG_011452.1|

Nucleotide
Chain C, Arginase 1
Chain C, Arginase 1
gi|56553822|pdb|1T4S|C

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003307437	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 15, 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

SCV003307437

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 15, 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, SCV003307437.2

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BTD-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 138 of the BTD protein (p.Val138Phe).

#	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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