NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) AND not provided

Germline classification:: Uncertain significance (5 submissions)
Last evaluated:: Oct 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:: RCV000755884.13

Allele description [Variation Report for NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)]

NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)

HGVS:

NC_000003.12:g.15635641C>G
NG_008019.2:g.39290C>G
NG_008019.3:g.39291C>G
NM_000060.4:c.262C>G
NM_001281723.4:c.202C>G
NM_001281724.3:c.202C>G
NM_001281725.3:c.202C>G
NM_001281726.3:c.202C>G
NM_001323582.2:c.202C>G
NM_001370658.1:c.202C>GMANE SELECT
NM_001370752.1:c.202C>G
NM_001370753.1:c.202C>G
NM_001407364.1:c.202C>G
NM_001407365.1:c.202C>G
NM_001407366.1:c.202C>G
NM_001407367.1:c.202C>G
NM_001407368.1:c.202C>G
NM_001407369.1:c.202C>G
NM_001407370.1:c.202C>G
NM_001407371.1:c.202C>G
NM_001407372.1:c.202C>G
NM_001407373.1:c.202C>G
NM_001407374.1:c.202C>G
NM_001407375.1:c.202C>G
NM_001407376.1:c.202C>G
NM_001407377.1:c.202C>G
NM_001407378.1:c.202C>G
NM_001407379.1:c.202C>G
NM_001407380.1:c.202C>G
NM_001407381.1:c.202C>G
NM_001407382.1:c.202C>G
NM_001407383.1:c.202C>G
NM_001407384.1:c.202C>G
NM_001407386.1:c.202C>G
NM_001407388.1:c.202C>G
NM_001407390.1:c.202C>G
NM_001407392.1:c.202C>G
NM_001407394.1:c.202C>G
NM_001407395.1:c.202C>G
NM_001407396.1:c.202C>G
NM_001407397.1:c.202C>G
NM_001407398.1:c.202C>G
NM_001407399.1:c.202C>G
NM_001407400.1:c.202C>G
NM_001407401.1:c.202C>G
NP_000051.1:p.Gln88Glu
NP_001268652.2:p.Gln68Glu
NP_001268653.2:p.Gln68Glu
NP_001268654.1:p.Gln68Glu
NP_001268655.2:p.Gln68Glu
NP_001310511.1:p.Gln68Glu
NP_001357587.1:p.Gln68Glu
NP_001357681.1:p.Gln68Glu
NP_001357682.1:p.Gln68Glu
NP_001394293.1:p.Gln68Glu
NP_001394294.1:p.Gln68Glu
NP_001394295.1:p.Gln68Glu
NP_001394296.1:p.Gln68Glu
NP_001394297.1:p.Gln68Glu
NP_001394298.1:p.Gln68Glu
NP_001394299.1:p.Gln68Glu
NP_001394300.1:p.Gln68Glu
NP_001394301.1:p.Gln68Glu
NP_001394302.1:p.Gln68Glu
NP_001394303.1:p.Gln68Glu
NP_001394304.1:p.Gln68Glu
NP_001394305.1:p.Gln68Glu
NP_001394306.1:p.Gln68Glu
NP_001394307.1:p.Gln68Glu
NP_001394308.1:p.Gln68Glu
NP_001394309.1:p.Gln68Glu
NP_001394310.1:p.Gln68Glu
NP_001394311.1:p.Gln68Glu
NP_001394312.1:p.Gln68Glu
NP_001394313.1:p.Gln68Glu
NP_001394315.1:p.Gln68Glu
NP_001394317.1:p.Gln68Glu
NP_001394319.1:p.Gln68Glu
NP_001394321.1:p.Gln68Glu
NP_001394323.1:p.Gln68Glu
NP_001394324.1:p.Gln68Glu
NP_001394325.1:p.Gln68Glu
NP_001394326.1:p.Gln68Glu
NP_001394327.1:p.Gln68Glu
NP_001394328.1:p.Gln68Glu
NP_001394329.1:p.Gln68Glu
NP_001394330.1:p.Gln68Glu
NC_000003.11:g.15677148C>G
NM_000060.3:c.262C>G
NM_001281724.1:c.268C>G

Protein change:

Q68E

Links:

dbSNP: rs151071780

NCBI 1000 Genomes Browser:

rs151071780

Molecular consequence:

NM_000060.4:c.262C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281726.3:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370753.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407380.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407381.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407382.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407383.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407384.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407386.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407388.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407390.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407392.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407394.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407395.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407396.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407397.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407398.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407399.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407400.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407401.1:c.202C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000526539	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 13, 2022)	germline	clinical testing	Citation Link,
SCV000883529	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Sep 29, 2017)	germline	clinical testing	Citation Link,
SCV001134039	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Apr 17, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001963498	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001965523	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	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 GeneDx, SCV000526539.5

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883529.1

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134039.2

#	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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963498.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965523.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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