NM_001370658.1(BTD):c.1503del (p.Arg502fs) AND Biotinidase deficiency

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Mar 20, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000668694.7

Allele description [Variation Report for NM_001370658.1(BTD):c.1503del (p.Arg502fs)]

NM_001370658.1(BTD):c.1503del (p.Arg502fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1503del (p.Arg502fs)

HGVS:

NC_000003.12:g.15645419del
NG_008019.2:g.49068del
NG_008019.3:g.49069del
NM_000060.4:c.1563del
NM_001281723.4:c.1503del
NM_001281724.3:c.1503del
NM_001281725.3:c.1503del
NM_001281726.2:c.*3281delG
NM_001323582.2:c.1503del
NM_001370658.1:c.1503delMANE SELECT
NM_001370752.1:c.1015+488del
NM_001370753.1:c.399+3362del
NM_001407364.1:c.1503del
NM_001407365.1:c.1503del
NM_001407366.1:c.1503del
NM_001407367.1:c.1503del
NM_001407368.1:c.1503del
NM_001407369.1:c.1503del
NM_001407370.1:c.1503del
NM_001407371.1:c.1503del
NM_001407372.1:c.1503del
NM_001407373.1:c.1503del
NM_001407374.1:c.1503del
NM_001407375.1:c.1503del
NM_001407376.1:c.1503del
NM_001407377.1:c.1503del
NM_001407378.1:c.1503del
NM_001407379.1:c.1015+488del
NM_001407380.1:c.399+3362del
NM_001407398.1:c.399+3362del
NM_001407399.1:c.399+3362del
NM_001407400.1:c.399+3362del
NM_001407401.1:c.399+3362del
NP_001268652.2:p.Arg502fs
NP_001268653.2:p.Arg502fs
NP_001268654.1:p.Arg502fs
NP_001310511.1:p.Arg502fs
NP_001357587.1:p.Arg502fs
NP_001394293.1:p.Arg502fs
NP_001394294.1:p.Arg502fs
NP_001394295.1:p.Arg502fs
NP_001394296.1:p.Arg502fs
NP_001394297.1:p.Arg502fs
NP_001394298.1:p.Arg502fs
NP_001394299.1:p.Arg502fs
NP_001394300.1:p.Arg502fs
NP_001394301.1:p.Arg502fs
NP_001394302.1:p.Arg502fs
NP_001394303.1:p.Arg502fs
NP_001394304.1:p.Arg502fs
NP_001394305.1:p.Arg502fs
NP_001394306.1:p.Arg502fs
NP_001394307.1:p.Arg502fs
NC_000003.11:g.15686926del
NM_001370658.1:c.1503del

Protein change:

R502fs

Links:

dbSNP: rs1163419871

NCBI 1000 Genomes Browser:

rs1163419871

Molecular consequence:

NM_001281723.4:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.1503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.1015+488del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3362del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407379.1:c.1015+488del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407380.1:c.399+3362del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407398.1:c.399+3362del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407399.1:c.399+3362del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407400.1:c.399+3362del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407401.1:c.399+3362del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793338	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 11, 2017)	unknown	clinical testing	Citation Link,
SCV004211457	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 7, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005660305	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 20, 2024)	germline	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

SCV000793338

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Aug 11, 2017)

unknown

clinical testing

Citation Link,

SCV004211457

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 7, 2024)

unknown

clinical testing

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

SCV005660305

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 20, 2024)

germline

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
not provided	germline	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 Counsyl, SCV000793338.1

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

From Baylor Genetics, SCV004211457.2

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

From Fulgent Genetics, Fulgent Genetics, SCV005660305.1

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

Last Updated: Mar 16, 2025

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