NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 28, 2020
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:: RCV001801035.2

Allele description [Variation Report for NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)]

NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)

HGVS:

NC_000003.12:g.15644952_15644953dup
NG_008019.2:g.48601_48602dup
NG_008019.3:g.48602_48603dup
NM_000060.4:c.1096_1097dup
NM_001281723.4:c.1036_1037dup
NM_001281724.3:c.1036_1037dup
NM_001281725.3:c.1036_1037dup
NM_001323582.2:c.1036_1037dup
NM_001370658.1:c.1036_1037dupMANE SELECT
NM_001370752.1:c.1015+21_1015+22dup
NM_001370753.1:c.399+2895_399+2896dup
NM_001407364.1:c.1036_1037dup
NM_001407365.1:c.1036_1037dup
NM_001407366.1:c.1036_1037dup
NM_001407367.1:c.1036_1037dup
NM_001407368.1:c.1036_1037dup
NM_001407369.1:c.1036_1037dup
NM_001407370.1:c.1036_1037dup
NM_001407371.1:c.1036_1037dup
NM_001407372.1:c.1036_1037dup
NM_001407373.1:c.1036_1037dup
NM_001407374.1:c.1036_1037dup
NM_001407375.1:c.1036_1037dup
NM_001407376.1:c.1036_1037dup
NM_001407377.1:c.1036_1037dup
NM_001407378.1:c.1036_1037dup
NP_000051.1:p.Gly367Glnfs
NP_001268652.2:p.Gly347Glnfs
NP_001268652.2:p.Gly347fs
NP_001268653.2:p.Gly347fs
NP_001268654.1:p.Gly347Glnfs
NP_001268654.1:p.Gly347fs
NP_001310511.1:p.Gly347Glnfs
NP_001310511.1:p.Gly347fs
NP_001357587.1:p.Gly347fs
NP_001394293.1:p.Gly347Glnfs
NP_001394294.1:p.Gly347Glnfs
NP_001394295.1:p.Gly347Glnfs
NP_001394296.1:p.Gly347Glnfs
NP_001394297.1:p.Gly347Glnfs
NP_001394298.1:p.Gly347Glnfs
NP_001394299.1:p.Gly347Glnfs
NP_001394300.1:p.Gly347Glnfs
NP_001394301.1:p.Gly347Glnfs
NP_001394302.1:p.Gly347Glnfs
NP_001394303.1:p.Gly347Glnfs
NP_001394304.1:p.Gly347Glnfs
NP_001394305.1:p.Gly347Glnfs
NP_001394306.1:p.Gly347Glnfs
NP_001394307.1:p.Gly347Glnfs
NC_000003.11:g.15686458_15686459insTC
NC_000003.11:g.15686459_15686460dup
NM_001281723.3:c.1036_1037dup
NM_001281725.2:c.1036_1037dup
NM_001323582.1:c.1036_1037dup

Protein change:

G347fs

Links:

dbSNP: rs1004027979

NCBI 1000 Genomes Browser:

rs1004027979

Molecular consequence:

NM_000060.4:c.1096_1097dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281723.4:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.1036_1037dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.1015+21_1015+22dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+2895_399+2896dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002046342	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Oct 28, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26810761, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002046342

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Oct 28, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Forty-eight novel mutations causing biotinidase deficiency.

Procter M, Wolf B, Mao R.

Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.

PubMed [citation]

PMID:: 26810761

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046342.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The frameshift variant causes the premature termination of BTD protein synthesis. It has been reported in an individual with biotinidase deficiency in the published literature (PMID: 26810761 (2016))). The frequency of this variant in the general population is consistent with pathogenicity. Therefore, the variant is classified as pathogenic.

#	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

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