NM_001370658.1(BTD):c.380A>G (p.His127Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 29, 2016
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:: RCV000392405.5

Allele description [Variation Report for NM_001370658.1(BTD):c.380A>G (p.His127Arg)]

NM_001370658.1(BTD):c.380A>G (p.His127Arg)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.380A>G (p.His127Arg)

HGVS:

NC_000003.12:g.15642038A>G
NG_008019.2:g.45687A>G
NM_000060.4:c.440A>G
NM_001281723.4:c.380A>G
NM_001281724.3:c.380A>G
NM_001281725.3:c.380A>G
NM_001281726.3:c.380A>G
NM_001323582.2:c.380A>G
NM_001370658.1:c.380A>GMANE SELECT
NM_001370752.1:c.380A>G
NM_001370753.1:c.380A>G
NM_001407364.1:c.380A>G
NM_001407365.1:c.380A>G
NM_001407366.1:c.380A>G
NM_001407367.1:c.380A>G
NM_001407368.1:c.380A>G
NM_001407369.1:c.380A>G
NM_001407370.1:c.380A>G
NM_001407371.1:c.380A>G
NM_001407372.1:c.380A>G
NM_001407373.1:c.380A>G
NM_001407374.1:c.380A>G
NM_001407375.1:c.380A>G
NM_001407376.1:c.380A>G
NM_001407377.1:c.380A>G
NM_001407378.1:c.380A>G
NM_001407379.1:c.380A>G
NM_001407380.1:c.380A>G
NM_001407381.1:c.443A>G
NM_001407382.1:c.380A>G
NM_001407383.1:c.380A>G
NM_001407384.1:c.380A>G
NM_001407386.1:c.380A>G
NM_001407388.1:c.380A>G
NM_001407390.1:c.380A>G
NM_001407392.1:c.380A>G
NM_001407394.1:c.380A>G
NM_001407395.1:c.380A>G
NM_001407396.1:c.380A>G
NM_001407397.1:c.380A>G
NM_001407398.1:c.380A>G
NM_001407399.1:c.380A>G
NM_001407400.1:c.380A>G
NM_001407401.1:c.380A>G
NP_000051.1:p.His147Arg
NP_001268652.2:p.His127Arg
NP_001268652.2:p.His127Arg
NP_001268653.2:p.His127Arg
NP_001268654.1:p.His127Arg
NP_001268654.1:p.His127Arg
NP_001268655.2:p.His127Arg
NP_001268655.2:p.His127Arg
NP_001310511.1:p.His127Arg
NP_001310511.1:p.His127Arg
NP_001357587.1:p.His127Arg
NP_001357681.1:p.His127Arg
NP_001357682.1:p.His127Arg
NP_001394293.1:p.His127Arg
NP_001394294.1:p.His127Arg
NP_001394295.1:p.His127Arg
NP_001394296.1:p.His127Arg
NP_001394297.1:p.His127Arg
NP_001394298.1:p.His127Arg
NP_001394299.1:p.His127Arg
NP_001394300.1:p.His127Arg
NP_001394301.1:p.His127Arg
NP_001394302.1:p.His127Arg
NP_001394303.1:p.His127Arg
NP_001394304.1:p.His127Arg
NP_001394305.1:p.His127Arg
NP_001394306.1:p.His127Arg
NP_001394307.1:p.His127Arg
NP_001394308.1:p.His127Arg
NP_001394309.1:p.His127Arg
NP_001394310.1:p.His148Arg
NP_001394311.1:p.His127Arg
NP_001394312.1:p.His127Arg
NP_001394313.1:p.His127Arg
NP_001394315.1:p.His127Arg
NP_001394317.1:p.His127Arg
NP_001394319.1:p.His127Arg
NP_001394321.1:p.His127Arg
NP_001394323.1:p.His127Arg
NP_001394324.1:p.His127Arg
NP_001394325.1:p.His127Arg
NP_001394326.1:p.His127Arg
NP_001394327.1:p.His127Arg
NP_001394328.1:p.His127Arg
NP_001394329.1:p.His127Arg
NP_001394330.1:p.His127Arg
NC_000003.11:g.15683545A>G
NM_001281723.3:c.380A>G
NM_001281725.2:c.380A>G
NM_001281726.2:c.380A>G
NM_001323582.1:c.380A>G

Protein change:

H127R

Links:

dbSNP: rs886044240

NCBI 1000 Genomes Browser:

rs886044240

Molecular consequence:

NM_000060.4:c.440A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281726.3:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370753.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407380.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407381.1:c.443A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407382.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407383.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407384.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407386.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407388.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407390.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407392.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407394.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407395.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407396.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407397.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407398.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407399.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407400.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407401.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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CBWN12202.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8917014 5', m...
CBWN12202.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8917014 5', mRNA sequence
gi|133795974|gnl|dbEST|45225578|gb| 618.1|

Nucleotide
JGI_CAAM5009.rev NIH_XGC_tropTe3 Xenopus tropicalis cDNA clone IMAGE:7678735 3',...
JGI_CAAM5009.rev NIH_XGC_tropTe3 Xenopus tropicalis cDNA clone IMAGE:7678735 3', mRNA sequence
gi|71790200|gnl|dbEST|30523883|gb|C 33.2|

Nucleotide
JGI_CAAN1359.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687086 3',...
JGI_CAAN1359.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687086 3', mRNA sequence
gi|71830229|gnl|dbEST|30550771|gb|C 46.2|

Nucleotide
AGENCOURT_39789306 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7767306 5', mR...
AGENCOURT_39789306 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7767306 5', mRNA sequence
gi|56706107|gnl|dbEST|26756019|gb|C 85.1|

Nucleotide
JGI_CAAN1453.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687014 3',...
JGI_CAAN1453.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687014 3', mRNA sequence
gi|58648060|gnl|dbEST|27615635|gb|C 16.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000344100	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 29, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000344100

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 29, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000344100.4

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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