NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu) AND Biotinidase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 2023
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:: RCV001918868.5

Allele description [Variation Report for NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)]

NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)

HGVS:

NC_000003.12:g.15645106_15645107delinsAG
NG_008019.2:g.48755_48756delinsAG
NG_008019.3:g.48756_48757delinsAG
NM_000060.4:c.1250_1251delTCinsAG
NM_001281723.4:c.1190_1191delTCinsAG
NM_001281724.3:c.1190_1191delinsAG
NM_001281725.3:c.1190_1191delTCinsAG
NM_001323582.2:c.1190_1191delTCinsAG
NM_001370658.1:c.1190_1191delinsAGMANE SELECT
NM_001370752.1:c.1015+175_1015+176delinsAG
NM_001370753.1:c.399+3049_399+3050delinsAG
NM_001407364.1:c.1190_1191delTCinsAG
NM_001407365.1:c.1190_1191delTCinsAG
NM_001407366.1:c.1190_1191delTCinsAG
NM_001407367.1:c.1190_1191delTCinsAG
NM_001407368.1:c.1190_1191delTCinsAG
NM_001407369.1:c.1190_1191delTCinsAG
NM_001407370.1:c.1190_1191delTCinsAG
NM_001407371.1:c.1190_1191delTCinsAG
NM_001407372.1:c.1190_1191delTCinsAG
NM_001407373.1:c.1190_1191delTCinsAG
NM_001407374.1:c.1190_1191delTCinsAG
NM_001407375.1:c.1190_1191delTCinsAG
NM_001407376.1:c.1190_1191delTCinsAG
NM_001407377.1:c.1190_1191delTCinsAG
NM_001407378.1:c.1190_1191delTCinsAG
NP_000051.1:p.Val417Glu
NP_001268652.2:p.Val397Glu
NP_001268652.2:p.Val397Glu
NP_001268653.2:p.Val397Glu
NP_001268654.1:p.Val397Glu
NP_001268654.1:p.Val397Glu
NP_001310511.1:p.Val397Glu
NP_001310511.1:p.Val397Glu
NP_001357587.1:p.Val397Glu
NP_001394293.1:p.Val397Glu
NP_001394294.1:p.Val397Glu
NP_001394295.1:p.Val397Glu
NP_001394296.1:p.Val397Glu
NP_001394297.1:p.Val397Glu
NP_001394298.1:p.Val397Glu
NP_001394299.1:p.Val397Glu
NP_001394300.1:p.Val397Glu
NP_001394301.1:p.Val397Glu
NP_001394302.1:p.Val397Glu
NP_001394303.1:p.Val397Glu
NP_001394304.1:p.Val397Glu
NP_001394305.1:p.Val397Glu
NP_001394306.1:p.Val397Glu
NP_001394307.1:p.Val397Glu
NC_000003.11:g.15686613_15686614delinsAG
NM_001281723.3:c.1190_1191delinsAG
NM_001281725.2:c.1190_1191delinsAG
NM_001323582.1:c.1190_1191delinsAG

Protein change:

V397E

Links:

dbSNP: rs2125504798

NCBI 1000 Genomes Browser:

rs2125504798

Molecular consequence:

NM_001370752.1:c.1015+175_1015+176delinsAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3049_399+3050delinsAG - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.1250_1251delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.1190_1191delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.1190_1191delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.1190_1191delTCinsAG - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002184887	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 4, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19757147, 30616616, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002184887

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 4, 2023)

germline

clinical testing

PubMed (3)
[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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S169-73. doi: 10.1007/s10545-009-1135-7. Epub 2009 Sep 7.

PubMed [citation]

PMID:: 19757147

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Hsu RH, Chien YH, Hwu WL, Chang IF, Ho HC, Chou SP, Huang TM, Lee NC.

Orphanet J Rare Dis. 2019 Jan 7;14(1):6. doi: 10.1186/s13023-018-0992-2.

PubMed [citation]

PMID:: 30616616
PMCID:: PMC6323711

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002184887.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 417 of the BTD protein (p.Val417Glu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 19757147, 30616616). ClinVar contains an entry for this variant (Variation ID: 1411643). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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: Sep 29, 2024

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