NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) AND Biotinidase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 18, 2015
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:: RCV000410710.3

Allele description [Variation Report for NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)]

NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)

HGVS:

NC_000003.12:g.15641970_15641973dup
NG_008019.2:g.45619_45622dup
NM_000060.4:c.372_375dup
NM_001281723.4:c.312_315dup
NM_001281724.3:c.312_315dup
NM_001281725.3:c.312_315dup
NM_001281726.3:c.312_315dup
NM_001323582.2:c.312_315dup
NM_001370658.1:c.312_315dupMANE SELECT
NM_001370752.1:c.312_315dup
NM_001370753.1:c.312_315dup
NM_001407364.1:c.312_315dup
NM_001407365.1:c.312_315dup
NM_001407366.1:c.312_315dup
NM_001407367.1:c.312_315dup
NM_001407368.1:c.312_315dup
NM_001407369.1:c.312_315dup
NM_001407370.1:c.312_315dup
NM_001407371.1:c.312_315dup
NM_001407372.1:c.312_315dup
NM_001407373.1:c.312_315dup
NM_001407374.1:c.312_315dup
NM_001407375.1:c.312_315dup
NM_001407376.1:c.312_315dup
NM_001407377.1:c.312_315dup
NM_001407378.1:c.312_315dup
NM_001407379.1:c.312_315dup
NM_001407380.1:c.312_315dup
NM_001407381.1:c.375_378dup
NM_001407382.1:c.312_315dup
NM_001407383.1:c.312_315dup
NM_001407384.1:c.312_315dup
NM_001407386.1:c.312_315dup
NM_001407388.1:c.312_315dup
NM_001407390.1:c.312_315dup
NM_001407392.1:c.312_315dup
NM_001407394.1:c.312_315dup
NM_001407395.1:c.312_315dup
NM_001407396.1:c.312_315dup
NM_001407397.1:c.312_315dup
NM_001407398.1:c.312_315dup
NM_001407399.1:c.312_315dup
NM_001407400.1:c.312_315dup
NM_001407401.1:c.312_315dup
NP_000051.1:p.Tyr126Hisfs
NP_001268652.2:p.Tyr106Hisfs
NP_001268652.2:p.Tyr106fs
NP_001268653.2:p.Tyr106fs
NP_001268654.1:p.Tyr106Hisfs
NP_001268654.1:p.Tyr106fs
NP_001268655.2:p.Tyr106Hisfs
NP_001268655.2:p.Tyr106fs
NP_001310511.1:p.Tyr106Hisfs
NP_001310511.1:p.Tyr106fs
NP_001357587.1:p.Tyr106fs
NP_001357681.1:p.Tyr106fs
NP_001357682.1:p.Tyr106fs
NP_001394293.1:p.Tyr106Hisfs
NP_001394294.1:p.Tyr106Hisfs
NP_001394295.1:p.Tyr106Hisfs
NP_001394296.1:p.Tyr106Hisfs
NP_001394297.1:p.Tyr106Hisfs
NP_001394298.1:p.Tyr106Hisfs
NP_001394299.1:p.Tyr106Hisfs
NP_001394300.1:p.Tyr106Hisfs
NP_001394301.1:p.Tyr106Hisfs
NP_001394302.1:p.Tyr106Hisfs
NP_001394303.1:p.Tyr106Hisfs
NP_001394304.1:p.Tyr106Hisfs
NP_001394305.1:p.Tyr106Hisfs
NP_001394306.1:p.Tyr106Hisfs
NP_001394307.1:p.Tyr106Hisfs
NP_001394308.1:p.Tyr106Hisfs
NP_001394309.1:p.Tyr106Hisfs
NP_001394310.1:p.Tyr127Hisfs
NP_001394311.1:p.Tyr106Hisfs
NP_001394312.1:p.Tyr106Hisfs
NP_001394313.1:p.Tyr106Hisfs
NP_001394315.1:p.Tyr106Hisfs
NP_001394317.1:p.Tyr106Hisfs
NP_001394319.1:p.Tyr106Hisfs
NP_001394321.1:p.Tyr106Hisfs
NP_001394323.1:p.Tyr106Hisfs
NP_001394324.1:p.Tyr106Hisfs
NP_001394325.1:p.Tyr106Hisfs
NP_001394326.1:p.Tyr106Hisfs
NP_001394327.1:p.Tyr106Hisfs
NP_001394328.1:p.Tyr106Hisfs
NP_001394329.1:p.Tyr106Hisfs
NP_001394330.1:p.Tyr106Hisfs
NC_000003.11:g.15683477_15683480dup
NM_001281723.3:c.312_315dup
NM_001281725.2:c.312_315dup
NM_001281726.2:c.312_315dup
NM_001323582.1:c.312_315dup

Protein change:

Y106fs

Links:

dbSNP: rs1057516223

NCBI 1000 Genomes Browser:

rs1057516223

Molecular consequence:

NM_000060.4:c.372_375dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281723.4:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281726.3:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370753.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407379.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407380.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407381.1:c.375_378dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407382.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407383.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407384.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407386.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407388.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407390.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407392.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407394.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407395.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407396.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407397.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407398.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407399.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407400.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407401.1:c.312_315dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Mus musculus DNA cross-link repair 1A, PSO2 homolog (S. cerevisiae) (Dclre1a), m...
Mus musculus DNA cross-link repair 1A, PSO2 homolog (S. cerevisiae) (Dclre1a), mRNA
gi|9055349|ref|NM_018831.1|

Nucleotide
PMC Links for GEO Profiles (Select 77981401) (45)
PMC

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
SCV000485306	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 18, 2015)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485306

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Nov 18, 2015)

unknown

clinical testing

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

Citation Link

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

Details of each submission

From Counsyl, SCV000485306.2

#	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

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine