NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 10, 2021
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:: RCV000728443.6

Allele description [Variation Report for NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)]

NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)

HGVS:

NC_000003.12:g.15645083_15645097delinsTTCCAATGGCC
NG_008019.3:g.48733_48747delinsTTCCAATGGCC
NM_000060.4:c.1227_1241delinsTTCCAATGGCC
NM_001281723.4:c.1167_1181delinsTTCCAATGGCC
NM_001281724.3:c.1167_1181delinsTTCCAATGGCC
NM_001281725.3:c.1167_1181delinsTTCCAATGGCC
NM_001281726.2:c.*2945_*2959delGGGAAAGGAAGGCTAinsTTCCAATGGCC
NM_001323582.2:c.1167_1181delinsTTCCAATGGCC
NM_001370658.1:c.1167_1181delinsTTCCAATGGCCMANE SELECT
NM_001370752.1:c.1015+152_1015+166delinsTTCCAATGGCC
NM_001370753.1:c.399+3026_399+3040delinsTTCCAATGGCC
NM_001407364.1:c.1167_1181delinsTTCCAATGGCC
NM_001407365.1:c.1167_1181delinsTTCCAATGGCC
NM_001407366.1:c.1167_1181delinsTTCCAATGGCC
NM_001407367.1:c.1167_1181delinsTTCCAATGGCC
NM_001407368.1:c.1167_1181delinsTTCCAATGGCC
NM_001407369.1:c.1167_1181delinsTTCCAATGGCC
NM_001407370.1:c.1167_1181delinsTTCCAATGGCC
NM_001407371.1:c.1167_1181delinsTTCCAATGGCC
NM_001407372.1:c.1167_1181delinsTTCCAATGGCC
NM_001407373.1:c.1167_1181delinsTTCCAATGGCC
NM_001407374.1:c.1167_1181delinsTTCCAATGGCC
NM_001407375.1:c.1167_1181delinsTTCCAATGGCC
NM_001407376.1:c.1167_1181delinsTTCCAATGGCC
NM_001407377.1:c.1167_1181delinsTTCCAATGGCC
NM_001407378.1:c.1167_1181delinsTTCCAATGGCC
NM_001407379.1:c.1015+152_1015+166delinsTTCCAATGGCC
NM_001407380.1:c.399+3026_399+3040delinsTTCCAATGGCC
NM_001407398.1:c.399+3026_399+3040delinsTTCCAATGGCC
NM_001407399.1:c.399+3026_399+3040delinsTTCCAATGGCC
NM_001407400.1:c.399+3026_399+3040delinsTTCCAATGGCC
NM_001407401.1:c.399+3026_399+3040delinsTTCCAATGGCC
NP_001268652.2:p.Trp389fs
NP_001268653.2:p.Trp389fs
NP_001268654.1:p.Trp389fs
NP_001310511.1:p.Trp389fs
NP_001357587.1:p.Trp389fs
NP_001394293.1:p.Trp389fs
NP_001394294.1:p.Trp389fs
NP_001394295.1:p.Trp389fs
NP_001394296.1:p.Trp389fs
NP_001394297.1:p.Trp389fs
NP_001394298.1:p.Trp389fs
NP_001394299.1:p.Trp389fs
NP_001394300.1:p.Trp389fs
NP_001394301.1:p.Trp389fs
NP_001394302.1:p.Trp389fs
NP_001394303.1:p.Trp389fs
NP_001394304.1:p.Trp389fs
NP_001394305.1:p.Trp389fs
NP_001394306.1:p.Trp389fs
NP_001394307.1:p.Trp389fs
NC_000003.11:g.15686590_15686604delinsTTCCAATGGCC
NG_008019.2:g.48732_48746delinsTTCCAATGGCC

Protein change:

W389fs

Links:

OMIM: 609019.0002; dbSNP: rs672601248

NCBI 1000 Genomes Browser:

rs672601248

Molecular consequence:

NM_000060.4:c.1227_1241delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281723.4:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281724.3:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281725.3:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323582.2:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370658.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407364.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407365.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407366.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407367.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407368.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407369.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407370.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407371.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407372.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407373.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407374.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407375.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407376.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407377.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407378.1:c.1167_1181delinsTTCCAATGGCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370752.1:c.1015+152_1015+166delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407379.1:c.1015+152_1015+166delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407380.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407398.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407399.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407400.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]
NM_001407401.1:c.399+3026_399+3040delinsTTCCAATGGCC - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV000856021	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jul 25, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002774330	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 10, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10400129, 8894703, 11668630, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000856021

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jul 25, 2017)

germline

clinical testing

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

Citation Link,

SCV002774330

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Aug 10, 2021)

unknown

clinical testing

PubMed (4)
[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	germline	unknown	1	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

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

Norrgard KJ, Pomponio RJ, Hymes J, Wolf B.

Pediatr Res. 1999 Jul;46(1):20-7.

PubMed [citation]

PMID:: 10400129

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

Pomponio RJ, Narasimhan V, Reynolds TR, Buck GA, Povirk LF, Wolf B.

Hum Mol Genet. 1996 Oct;5(10):1657-61.

PubMed [citation]

PMID:: 8894703

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000856021.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774330.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This frameshift variant causes the premature termination of BTD protein synthesis. In addition, it has been reported in a child with biotinidase deficiency in the published literature (PMID: 8894703 (1996)). Based on the available information, this 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 26, 2024

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