NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) AND Biotinidase deficiency

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 11, 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:: RCV000411441.4

Allele description [Variation Report for NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)]

NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)

HGVS:

NC_000003.12:g.15645161AG[1]
NG_008019.3:g.48811AG[1]
NM_001281723.4:c.1247_1248del
NM_001281724.3:c.1247_1248del
NM_001281725.3:c.1247_1248del
NM_001281726.2:c.*3023_*3024AG[1]
NM_001323582.2:c.1247_1248del
NM_001370658.1:c.1247_1248delMANE SELECT
NM_001370752.1:c.1015+232_1015+233del
NM_001370753.1:c.399+3106_399+3107del
NM_001407364.1:c.1247_1248del
NM_001407365.1:c.1247_1248del
NM_001407366.1:c.1247_1248del
NM_001407367.1:c.1247_1248del
NM_001407368.1:c.1247_1248del
NM_001407369.1:c.1247_1248del
NM_001407370.1:c.1247_1248del
NM_001407371.1:c.1247_1248del
NM_001407372.1:c.1247_1248del
NM_001407373.1:c.1247_1248del
NM_001407374.1:c.1247_1248del
NM_001407375.1:c.1247_1248del
NM_001407376.1:c.1247_1248del
NM_001407377.1:c.1247_1248del
NM_001407378.1:c.1247_1248del
NM_001407379.1:c.1015+232_1015+233del
NM_001407380.1:c.399+3106_399+3107del
NM_001407398.1:c.399+3106_399+3107del
NM_001407399.1:c.399+3106_399+3107del
NM_001407400.1:c.399+3106_399+3107del
NM_001407401.1:c.399+3106_399+3107del
NP_001268652.2:p.Glu416fs
NP_001268653.2:p.Glu416fs
NP_001268654.1:p.Glu416fs
NP_001310511.1:p.Glu416fs
NP_001357587.1:p.Glu416fs
NP_001394293.1:p.Glu416fs
NP_001394294.1:p.Glu416fs
NP_001394295.1:p.Glu416fs
NP_001394296.1:p.Glu416fs
NP_001394297.1:p.Glu416fs
NP_001394298.1:p.Glu416fs
NP_001394299.1:p.Glu416fs
NP_001394300.1:p.Glu416fs
NP_001394301.1:p.Glu416fs
NP_001394302.1:p.Glu416fs
NP_001394303.1:p.Glu416fs
NP_001394304.1:p.Glu416fs
NP_001394305.1:p.Glu416fs
NP_001394306.1:p.Glu416fs
NP_001394307.1:p.Glu416fs
NC_000003.11:g.15686668AG[1]
NG_008019.2:g.48810AG[1]
NM_000060.4:c.1307_1308del

Protein change:

E416fs

Links:

dbSNP: rs1057517225

NCBI 1000 Genomes Browser:

rs1057517225

Molecular consequence:

NM_001281723.4:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.1247_1248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.1015+232_1015+233del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3106_399+3107del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407379.1:c.1015+232_1015+233del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407380.1:c.399+3106_399+3107del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407398.1:c.399+3106_399+3107del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407399.1:c.399+3106_399+3107del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407400.1:c.399+3106_399+3107del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407401.1:c.399+3106_399+3107del - 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
SCV000486941	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Sep 9, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link,
SCV004211436	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 11, 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

SCV000486941

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Sep 9, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV004211436

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 11, 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	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 Counsyl, SCV000486941.2

#	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, SCV004211436.1

#	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 13, 2024

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