NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) AND Biotinidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 2021
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:: RCV002476631.1

Allele description [Variation Report for NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)]

NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)

HGVS:

NC_000003.12:g.15642035C>G
NG_008019.2:g.45684C>G
NM_000060.4:c.437C>G
NM_001281723.4:c.377C>G
NM_001281724.3:c.377C>G
NM_001281725.3:c.377C>G
NM_001281726.3:c.377C>G
NM_001323582.2:c.377C>G
NM_001370658.1:c.377C>GMANE SELECT
NM_001370752.1:c.377C>G
NM_001370753.1:c.377C>G
NM_001407364.1:c.377C>G
NM_001407365.1:c.377C>G
NM_001407366.1:c.377C>G
NM_001407367.1:c.377C>G
NM_001407368.1:c.377C>G
NM_001407369.1:c.377C>G
NM_001407370.1:c.377C>G
NM_001407371.1:c.377C>G
NM_001407372.1:c.377C>G
NM_001407373.1:c.377C>G
NM_001407374.1:c.377C>G
NM_001407375.1:c.377C>G
NM_001407376.1:c.377C>G
NM_001407377.1:c.377C>G
NM_001407378.1:c.377C>G
NM_001407379.1:c.377C>G
NM_001407380.1:c.377C>G
NM_001407381.1:c.440C>G
NM_001407382.1:c.377C>G
NM_001407383.1:c.377C>G
NM_001407384.1:c.377C>G
NM_001407386.1:c.377C>G
NM_001407388.1:c.377C>G
NM_001407390.1:c.377C>G
NM_001407392.1:c.377C>G
NM_001407394.1:c.377C>G
NM_001407395.1:c.377C>G
NM_001407396.1:c.377C>G
NM_001407397.1:c.377C>G
NM_001407398.1:c.377C>G
NM_001407399.1:c.377C>G
NM_001407400.1:c.377C>G
NM_001407401.1:c.377C>G
NP_000051.1:p.Pro146Arg
NP_001268652.2:p.Pro126Arg
NP_001268652.2:p.Pro126Arg
NP_001268653.2:p.Pro126Arg
NP_001268654.1:p.Pro126Arg
NP_001268654.1:p.Pro126Arg
NP_001268655.2:p.Pro126Arg
NP_001268655.2:p.Pro126Arg
NP_001310511.1:p.Pro126Arg
NP_001310511.1:p.Pro126Arg
NP_001357587.1:p.Pro126Arg
NP_001357681.1:p.Pro126Arg
NP_001357682.1:p.Pro126Arg
NP_001394293.1:p.Pro126Arg
NP_001394294.1:p.Pro126Arg
NP_001394295.1:p.Pro126Arg
NP_001394296.1:p.Pro126Arg
NP_001394297.1:p.Pro126Arg
NP_001394298.1:p.Pro126Arg
NP_001394299.1:p.Pro126Arg
NP_001394300.1:p.Pro126Arg
NP_001394301.1:p.Pro126Arg
NP_001394302.1:p.Pro126Arg
NP_001394303.1:p.Pro126Arg
NP_001394304.1:p.Pro126Arg
NP_001394305.1:p.Pro126Arg
NP_001394306.1:p.Pro126Arg
NP_001394307.1:p.Pro126Arg
NP_001394308.1:p.Pro126Arg
NP_001394309.1:p.Pro126Arg
NP_001394310.1:p.Pro147Arg
NP_001394311.1:p.Pro126Arg
NP_001394312.1:p.Pro126Arg
NP_001394313.1:p.Pro126Arg
NP_001394315.1:p.Pro126Arg
NP_001394317.1:p.Pro126Arg
NP_001394319.1:p.Pro126Arg
NP_001394321.1:p.Pro126Arg
NP_001394323.1:p.Pro126Arg
NP_001394324.1:p.Pro126Arg
NP_001394325.1:p.Pro126Arg
NP_001394326.1:p.Pro126Arg
NP_001394327.1:p.Pro126Arg
NP_001394328.1:p.Pro126Arg
NP_001394329.1:p.Pro126Arg
NP_001394330.1:p.Pro126Arg
NC_000003.11:g.15683542C>G
NM_001281723.3:c.377C>G
NM_001281725.2:c.377C>G
NM_001281726.2:c.377C>G
NM_001323582.1:c.377C>G

Protein change:

P126R

Links:

dbSNP: rs371116229

NCBI 1000 Genomes Browser:

rs371116229

Molecular consequence:

NM_000060.4:c.437C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281726.3:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370752.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370753.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407379.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407380.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407381.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407382.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407383.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407384.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407386.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407388.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407390.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407392.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407394.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407395.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407396.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407397.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407398.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407399.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407400.1:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407401.1:c.377C>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002777473	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 16, 2021)	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

SCV002777473

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 16, 2021)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002777473.1

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

Last Updated: Dec 24, 2023

ClinVar

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