NM_001370658.1(BTD):c.1030dup (p.Ile344fs) AND Biotinidase deficiency

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 12, 2023
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:: RCV003135875.4

Allele description [Variation Report for NM_001370658.1(BTD):c.1030dup (p.Ile344fs)]

NM_001370658.1(BTD):c.1030dup (p.Ile344fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1030dup (p.Ile344fs)

HGVS:

NC_000003.12:g.15644946dup
NG_008019.3:g.48596dup
NM_000060.4:c.1090dup
NM_001281723.4:c.1030dup
NM_001281724.3:c.1030dup
NM_001281725.3:c.1030dup
NM_001323582.2:c.1030dup
NM_001370658.1:c.1030dupMANE SELECT
NM_001370752.1:c.1015+15dup
NM_001370753.1:c.399+2889dup
NM_001407364.1:c.1030dup
NM_001407365.1:c.1030dup
NM_001407366.1:c.1030dup
NM_001407367.1:c.1030dup
NM_001407368.1:c.1030dup
NM_001407369.1:c.1030dup
NM_001407370.1:c.1030dup
NM_001407371.1:c.1030dup
NM_001407372.1:c.1030dup
NM_001407373.1:c.1030dup
NM_001407374.1:c.1030dup
NM_001407375.1:c.1030dup
NM_001407376.1:c.1030dup
NM_001407377.1:c.1030dup
NM_001407378.1:c.1030dup
NP_000051.1:p.Ile364Asnfs
NP_001268652.2:p.Ile344Asnfs
NP_001268652.2:p.Ile344fs
NP_001268653.2:p.Ile344fs
NP_001268654.1:p.Ile344Asnfs
NP_001268654.1:p.Ile344fs
NP_001310511.1:p.Ile344Asnfs
NP_001310511.1:p.Ile344fs
NP_001357587.1:p.Ile344fs
NP_001394293.1:p.Ile344Asnfs
NP_001394294.1:p.Ile344Asnfs
NP_001394295.1:p.Ile344Asnfs
NP_001394296.1:p.Ile344Asnfs
NP_001394297.1:p.Ile344Asnfs
NP_001394298.1:p.Ile344Asnfs
NP_001394299.1:p.Ile344Asnfs
NP_001394300.1:p.Ile344Asnfs
NP_001394301.1:p.Ile344Asnfs
NP_001394302.1:p.Ile344Asnfs
NP_001394303.1:p.Ile344Asnfs
NP_001394304.1:p.Ile344Asnfs
NP_001394305.1:p.Ile344Asnfs
NP_001394306.1:p.Ile344Asnfs
NP_001394307.1:p.Ile344Asnfs
NC_000003.11:g.15686453dup
NG_008019.2:g.48595dup
NM_000060.4:c.1090dup
NM_001281723.3:c.1030dup
NM_001281725.2:c.1030dup
NM_001323582.1:c.1030dup

Protein change:

I344fs

Molecular consequence:

NM_000060.4:c.1090dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281723.4:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.1030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.1015+15dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+2889dup - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003813040	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211408	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 12, 2023)	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

SCV003813040

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 5, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004211408

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 12, 2023)

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	unknown	not provided	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

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 Revvity Omics, Revvity, SCV003813040.2

#	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 Baylor Genetics, SCV004211408.1

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine