NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) AND Biotinidase deficiency

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Jun 13, 2022
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:: RCV000021987.10

Allele description [Variation Report for NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)]

NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)

HGVS:

NC_000003.12:g.15645061A>G
NG_008019.2:g.48710A>G
NG_008019.3:g.48711A>G
NM_000060.4:c.1205A>G
NM_001281723.4:c.1145A>G
NM_001281724.3:c.1145A>G
NM_001281725.3:c.1145A>G
NM_001323582.2:c.1145A>G
NM_001370658.1:c.1145A>GMANE SELECT
NM_001370752.1:c.1015+130A>G
NM_001370753.1:c.399+3004A>G
NM_001407364.1:c.1145A>G
NM_001407365.1:c.1145A>G
NM_001407366.1:c.1145A>G
NM_001407367.1:c.1145A>G
NM_001407368.1:c.1145A>G
NM_001407369.1:c.1145A>G
NM_001407370.1:c.1145A>G
NM_001407371.1:c.1145A>G
NM_001407372.1:c.1145A>G
NM_001407373.1:c.1145A>G
NM_001407374.1:c.1145A>G
NM_001407375.1:c.1145A>G
NM_001407376.1:c.1145A>G
NM_001407377.1:c.1145A>G
NM_001407378.1:c.1145A>G
NP_000051.1:p.Asn402Ser
NP_001268652.2:p.Asn382Ser
NP_001268652.2:p.Asn382Ser
NP_001268653.2:p.Asn382Ser
NP_001268654.1:p.Asn382Ser
NP_001268654.1:p.Asn382Ser
NP_001310511.1:p.Asn382Ser
NP_001310511.1:p.Asn382Ser
NP_001357587.1:p.Asn382Ser
NP_001394293.1:p.Asn382Ser
NP_001394294.1:p.Asn382Ser
NP_001394295.1:p.Asn382Ser
NP_001394296.1:p.Asn382Ser
NP_001394297.1:p.Asn382Ser
NP_001394298.1:p.Asn382Ser
NP_001394299.1:p.Asn382Ser
NP_001394300.1:p.Asn382Ser
NP_001394301.1:p.Asn382Ser
NP_001394302.1:p.Asn382Ser
NP_001394303.1:p.Asn382Ser
NP_001394304.1:p.Asn382Ser
NP_001394305.1:p.Asn382Ser
NP_001394306.1:p.Asn382Ser
NP_001394307.1:p.Asn382Ser
NC_000003.11:g.15686568A>G
NM_001281723.3:c.1145A>G
NM_001281725.2:c.1145A>G
NM_001323582.1:c.1145A>G
NM_001370658.1:c.1145A>G

Protein change:

N382S

Links:

dbSNP: rs201023772

NCBI 1000 Genomes Browser:

rs201023772

Molecular consequence:

NM_001370752.1:c.1015+130A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3004A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.1145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.1145A>G - 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

Recent activity

Clear Turn Off Turn On

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
SCV000800620	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 8, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25144890, 22863189, 20224900 Citation Link,
SCV000813112	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 13, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20224900, 25144890, 28492532
SCV002081573	Natera, Inc.	no assertion criteria provided	Uncertain significance (Feb 11, 2020)	germline	clinical testing
SCV002778295	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 20, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, et al.

Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2.

PubMed [citation]

PMID:: 22863189
PMCID:: PMC3415540

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A, Guthenberg C, Holme E, von Döbeln U.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S175-80. doi: 10.1007/s10545-010-9065-y. Epub 2010 Mar 12.

PubMed [citation]

PMID:: 20224900

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000800620.1

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

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000813112.3

#	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 asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 402 of the BTD protein (p.Asn402Ser). This variant is present in population databases (rs201023772, gnomAD 0.03%). This missense change has been observed in individual(s) with partial biotinidase deficiency (PMID: 20224900, 25144890). ClinVar contains an entry for this variant (Variation ID: 25062). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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

From Natera, Inc., SCV002081573.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002778295.1

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

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine