NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 28, 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:: RCV003324083.2

Allele description [Variation Report for NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)]

NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)

Gene:

BTD:biotinidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

Preferred name:

NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)

HGVS:

NC_000003.12:g.15645208G>A
NG_008019.2:g.48857G>A
NG_008019.3:g.48858G>A
NM_000060.4:c.1352G>A
NM_001281723.4:c.1292G>A
NM_001281724.3:c.1292G>A
NM_001281725.3:c.1292G>A
NM_001323582.2:c.1292G>A
NM_001370658.1:c.1292G>AMANE SELECT
NM_001370752.1:c.1015+277G>A
NM_001370753.1:c.399+3151G>A
NM_001407364.1:c.1292G>A
NM_001407365.1:c.1292G>A
NM_001407366.1:c.1292G>A
NM_001407367.1:c.1292G>A
NM_001407368.1:c.1292G>A
NM_001407369.1:c.1292G>A
NM_001407370.1:c.1292G>A
NM_001407371.1:c.1292G>A
NM_001407372.1:c.1292G>A
NM_001407373.1:c.1292G>A
NM_001407374.1:c.1292G>A
NM_001407375.1:c.1292G>A
NM_001407376.1:c.1292G>A
NM_001407377.1:c.1292G>A
NM_001407378.1:c.1292G>A
NP_000051.1:p.Gly451Asp
NP_001268652.2:p.Gly431Asp
NP_001268652.2:p.Gly431Asp
NP_001268653.2:p.Gly431Asp
NP_001268654.1:p.Gly431Asp
NP_001268654.1:p.Gly431Asp
NP_001310511.1:p.Gly431Asp
NP_001310511.1:p.Gly431Asp
NP_001357587.1:p.Gly431Asp
NP_001394293.1:p.Gly431Asp
NP_001394294.1:p.Gly431Asp
NP_001394295.1:p.Gly431Asp
NP_001394296.1:p.Gly431Asp
NP_001394297.1:p.Gly431Asp
NP_001394298.1:p.Gly431Asp
NP_001394299.1:p.Gly431Asp
NP_001394300.1:p.Gly431Asp
NP_001394301.1:p.Gly431Asp
NP_001394302.1:p.Gly431Asp
NP_001394303.1:p.Gly431Asp
NP_001394304.1:p.Gly431Asp
NP_001394305.1:p.Gly431Asp
NP_001394306.1:p.Gly431Asp
NP_001394307.1:p.Gly431Asp
NC_000003.11:g.15686715G>A
NM_001281723.3:c.1292G>A
NM_001281725.2:c.1292G>A
NM_001323582.1:c.1292G>A
P43251:p.Gly451Asp

Protein change:

G431D

Links:

UniProtKB: P43251#VAR_005118; dbSNP: rs397514419

NCBI 1000 Genomes Browser:

rs397514419

Molecular consequence:

NM_001370752.1:c.1015+277G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001370753.1:c.399+3151G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000060.4:c.1352G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281723.4:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281724.3:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001281725.3:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323582.2:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370658.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407364.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407365.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407366.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407367.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407368.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407369.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407370.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407371.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407372.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407373.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407374.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407375.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407376.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407377.1:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407378.1:c.1292G>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
SCV004029300	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 28, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9654207, 26361991, 27625817 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004029300

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 28, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B.

Hum Genet. 1998 May;102(5):571-5. Erratum in: Hum Genet 1998 Jun;102(6):712.

PubMed [citation]

PMID:: 9654207

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.

Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31.

PubMed [citation]

PMID:: 26361991

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029300.1

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

Description

Variant summary: BTD c.1292G>A (p.Gly431Asp) results in a non-conservative amino acid change located in the C-terminal domain (IPR043957) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251428 control chromosomes (i.e., 2 heterozygotes; gnomAD v2.1 Exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1292G>A has been reported in the literature in individuals affected with Biotinidase Deficiency (e.g., Swango_1998, Lindau-Shepard_2012, Gannavarapu_2015). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26361991, 27625817, 9654207). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

#	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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