NM_001370658.1(BTD):c.739G>T (p.Val247Leu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 13, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000998008.26

Allele description [Variation Report for NM_001370658.1(BTD):c.739G>T (p.Val247Leu)]

NM_001370658.1(BTD):c.739G>T (p.Val247Leu)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.739G>T (p.Val247Leu)

HGVS:

NC_000003.12:g.15644655G>T
NG_008019.2:g.48304G>T
NG_008019.3:g.48305G>T
NM_000060.4:c.799G>T
NM_001281723.4:c.739G>T
NM_001281724.3:c.739G>T
NM_001281725.3:c.739G>T
NM_001281726.2:c.*2517G>T
NM_001323582.2:c.739G>T
NM_001370658.1:c.739G>TMANE SELECT
NM_001370752.1:c.739G>T
NM_001370753.1:c.399+2598G>T
NM_001407364.1:c.739G>T
NM_001407365.1:c.739G>T
NM_001407366.1:c.739G>T
NM_001407367.1:c.739G>T
NM_001407368.1:c.739G>T
NM_001407369.1:c.739G>T
NM_001407370.1:c.739G>T
NM_001407371.1:c.739G>T
NM_001407372.1:c.739G>T
NM_001407373.1:c.739G>T
NM_001407374.1:c.739G>T
NM_001407375.1:c.739G>T
NM_001407376.1:c.739G>T
NM_001407377.1:c.739G>T
NM_001407378.1:c.739G>T
NM_001407379.1:c.739G>T
NM_001407380.1:c.399+2598G>T
NM_001407398.1:c.399+2598G>T
NM_001407399.1:c.399+2598G>T
NM_001407400.1:c.399+2598G>T
NM_001407401.1:c.399+2598G>T
NP_000051.1:p.Val267Leu
NP_001268652.2:p.Val247Leu
NP_001268653.2:p.Val247Leu
NP_001268654.1:p.Val247Leu
NP_001310511.1:p.Val247Leu
NP_001357587.1:p.Val247Leu
NP_001357681.1:p.Val247Leu
NP_001394293.1:p.Val247Leu
NP_001394294.1:p.Val247Leu
NP_001394295.1:p.Val247Leu
NP_001394296.1:p.Val247Leu
NP_001394297.1:p.Val247Leu
NP_001394298.1:p.Val247Leu
NP_001394299.1:p.Val247Leu
NP_001394300.1:p.Val247Leu
NP_001394301.1:p.Val247Leu
NP_001394302.1:p.Val247Leu
NP_001394303.1:p.Val247Leu
NP_001394304.1:p.Val247Leu
NP_001394305.1:p.Val247Leu
NP_001394306.1:p.Val247Leu
NP_001394307.1:p.Val247Leu
NP_001394308.1:p.Val247Leu
NC_000003.11:g.15686162G>T
NM_000060.3:c.799G>T

Protein change:

V247L

Links:

dbSNP: rs1443274190

NCBI 1000 Genomes Browser:

rs1443274190

Molecular consequence:

NM_001370753.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407380.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407398.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407399.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407400.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407401.1:c.399+2598G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.739G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001153816	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Feb 1, 2018)	germline	clinical testing	Citation Link,
SCV001470476	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Sep 13, 2022)	unknown	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

SCV001153816

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Feb 1, 2018)

germline

clinical testing

Citation Link,

SCV001470476

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Sep 13, 2022)

unknown

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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001153816.27

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470476.3

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

Description

To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Nov 10, 2024

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