NM_001370658.1(BTD):c.1137G>A (p.Met379Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 27, 2024
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:: RCV004526995.2

Allele description [Variation Report for NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)]

NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)

HGVS:

NC_000003.12:g.15645053G>A
NG_008019.2:g.48702G>A
NG_008019.3:g.48703G>A
NM_001281723.4:c.1137G>A
NM_001281724.3:c.1137G>A
NM_001281725.3:c.1137G>A
NM_001281726.2:c.*2915G>A
NM_001323582.2:c.1137G>A
NM_001370658.1:c.1137G>AMANE SELECT
NM_001370752.1:c.1015+122G>A
NM_001370753.1:c.399+2996G>A
NM_001407364.1:c.1137G>A
NM_001407365.1:c.1137G>A
NM_001407366.1:c.1137G>A
NM_001407367.1:c.1137G>A
NM_001407368.1:c.1137G>A
NM_001407369.1:c.1137G>A
NM_001407370.1:c.1137G>A
NM_001407371.1:c.1137G>A
NM_001407372.1:c.1137G>A
NM_001407373.1:c.1137G>A
NM_001407374.1:c.1137G>A
NM_001407375.1:c.1137G>A
NM_001407376.1:c.1137G>A
NM_001407377.1:c.1137G>A
NM_001407378.1:c.1137G>A
NM_001407379.1:c.1015+122G>A
NM_001407380.1:c.399+2996G>A
NM_001407398.1:c.399+2996G>A
NM_001407399.1:c.399+2996G>A
NM_001407400.1:c.399+2996G>A
NM_001407401.1:c.399+2996G>A
NP_001268652.2:p.Met379Ile
NP_001268653.2:p.Met379Ile
NP_001268654.1:p.Met379Ile
NP_001310511.1:p.Met379Ile
NP_001357587.1:p.Met379Ile
NP_001394293.1:p.Met379Ile
NP_001394294.1:p.Met379Ile
NP_001394295.1:p.Met379Ile
NP_001394296.1:p.Met379Ile
NP_001394297.1:p.Met379Ile
NP_001394298.1:p.Met379Ile
NP_001394299.1:p.Met379Ile
NP_001394300.1:p.Met379Ile
NP_001394301.1:p.Met379Ile
NP_001394302.1:p.Met379Ile
NP_001394303.1:p.Met379Ile
NP_001394304.1:p.Met379Ile
NP_001394305.1:p.Met379Ile
NP_001394306.1:p.Met379Ile
NP_001394307.1:p.Met379Ile
NC_000003.11:g.15686560G>A

Protein change:

M379I

Molecular consequence:

NM_001370752.1:c.1015+122G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407379.1:c.1015+122G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407380.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407398.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407399.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407400.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407401.1:c.399+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001281723.4:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.1137G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040634	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040634

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 27, 2024)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Porta F, Pagliardini V, Celestino I, Pavanello E, Pagliardini S, Guardamagna O, Ponzone A, Spada M.

Mol Genet Metab Rep. 2017 Dec;13:80-82. doi: 10.1016/j.ymgmr.2017.08.005.

PubMed [citation]

PMID:: 28971021
PMCID:: PMC5608602

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040634.2

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

Description

Variant summary: BTD c.1137G>A (p.Met379Ile) results in a conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251400 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1137G>A has been reported in the literature in individuals affected with Biotinidase Deficiency (Porta_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 28971021). ClinVar contains an entry for this variant (Variation ID: 2734456). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Oct 26, 2024

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