NM_001370658.1(BTD):c.68A>G (p.His23Arg) AND Biotinidase deficiency
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000022030.20
Allele description [Variation Report for NM_001370658.1(BTD):c.68A>G (p.His23Arg)]
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
- Gene:
- BTD:biotinidase [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 3p25.1
- Genomic location:
- Preferred name:
- NM_001370658.1(BTD):c.68A>G (p.His23Arg)
- Other names:
- H43R
- HGVS:
- NC_000003.12:g.15635507A>G
- NG_008019.2:g.39156A>G
- NM_000060.4:c.128A>G
- NM_000060.4:c.128A>G
- NM_001281723.4:c.68A>G
- NM_001281724.3:c.68A>G
- NM_001281725.3:c.68A>G
- NM_001281726.3:c.68A>G
- NM_001323582.2:c.68A>G
- NM_001370658.1:c.68A>GMANE SELECT
- NM_001370752.1:c.68A>G
- NM_001370753.1:c.68A>G
- NM_001407364.1:c.68A>G
- NM_001407365.1:c.68A>G
- NM_001407366.1:c.68A>G
- NM_001407367.1:c.68A>G
- NM_001407368.1:c.68A>G
- NM_001407369.1:c.68A>G
- NM_001407370.1:c.68A>G
- NM_001407371.1:c.68A>G
- NM_001407372.1:c.68A>G
- NM_001407373.1:c.68A>G
- NM_001407374.1:c.68A>G
- NM_001407375.1:c.68A>G
- NM_001407376.1:c.68A>G
- NM_001407377.1:c.68A>G
- NM_001407378.1:c.68A>G
- NM_001407379.1:c.68A>G
- NM_001407380.1:c.68A>G
- NM_001407381.1:c.68A>G
- NM_001407382.1:c.68A>G
- NM_001407383.1:c.68A>G
- NM_001407384.1:c.68A>G
- NM_001407386.1:c.68A>G
- NM_001407388.1:c.68A>G
- NM_001407390.1:c.68A>G
- NM_001407392.1:c.68A>G
- NM_001407394.1:c.68A>G
- NM_001407395.1:c.68A>G
- NM_001407396.1:c.68A>G
- NM_001407397.1:c.68A>G
- NM_001407398.1:c.68A>G
- NM_001407399.1:c.68A>G
- NM_001407400.1:c.68A>G
- NM_001407401.1:c.68A>G
- NP_000051.1:p.His43Arg
- NP_001268652.2:p.His23Arg
- NP_001268652.2:p.His23Arg
- NP_001268653.2:p.His23Arg
- NP_001268654.1:p.His23Arg
- NP_001268654.1:p.His23Arg
- NP_001268655.2:p.His23Arg
- NP_001268655.2:p.His23Arg
- NP_001310511.1:p.His23Arg
- NP_001310511.1:p.His23Arg
- NP_001357587.1:p.His23Arg
- NP_001357681.1:p.His23Arg
- NP_001357682.1:p.His23Arg
- NP_001394293.1:p.His23Arg
- NP_001394294.1:p.His23Arg
- NP_001394295.1:p.His23Arg
- NP_001394296.1:p.His23Arg
- NP_001394297.1:p.His23Arg
- NP_001394298.1:p.His23Arg
- NP_001394299.1:p.His23Arg
- NP_001394300.1:p.His23Arg
- NP_001394301.1:p.His23Arg
- NP_001394302.1:p.His23Arg
- NP_001394303.1:p.His23Arg
- NP_001394304.1:p.His23Arg
- NP_001394305.1:p.His23Arg
- NP_001394306.1:p.His23Arg
- NP_001394307.1:p.His23Arg
- NP_001394308.1:p.His23Arg
- NP_001394309.1:p.His23Arg
- NP_001394310.1:p.His23Arg
- NP_001394311.1:p.His23Arg
- NP_001394312.1:p.His23Arg
- NP_001394313.1:p.His23Arg
- NP_001394315.1:p.His23Arg
- NP_001394317.1:p.His23Arg
- NP_001394319.1:p.His23Arg
- NP_001394321.1:p.His23Arg
- NP_001394323.1:p.His23Arg
- NP_001394324.1:p.His23Arg
- NP_001394325.1:p.His23Arg
- NP_001394326.1:p.His23Arg
- NP_001394327.1:p.His23Arg
- NP_001394328.1:p.His23Arg
- NP_001394329.1:p.His23Arg
- NP_001394330.1:p.His23Arg
- NC_000003.11:g.15677014A>G
- NG_008019.1:g.38760A>G
- NM_001281723.2:c.134A>G
- NM_001281723.3:c.68A>G
- NM_001281723.3:c.68A>G
- NM_001281725.2:c.68A>G
- NM_001281726.2:c.68A>G
- NM_001323582.1:c.68A>G
This HGVS expression did not pass validation- Protein change:
- H23R
- Links:
- dbSNP: rs146011150
- NCBI 1000 Genomes Browser:
- rs146011150
- Molecular consequence:
- NM_000060.4:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001281723.4:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001281724.3:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001281725.3:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001281726.3:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001323582.2:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001370658.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001370752.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001370753.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407364.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407365.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407366.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407367.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407368.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407369.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407370.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407371.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407372.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407373.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407374.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407375.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407376.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407377.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407378.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407379.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407380.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407381.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407382.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407383.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407384.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407386.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407388.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407390.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407392.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407394.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407395.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407396.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407397.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407398.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407399.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407400.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407401.1:c.68A>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000607107 | GenomeConnect, ClinGen | no classification provided | not provided | germline | phenotyping only | |
| SCV000943282 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Oct 24, 2022) | germline | clinical testing | |
| SCV001440042 | Institute of Human Genetics, University of Leipzig Medical Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Jan 1, 2019) | unknown | clinical testing | |
| SCV001454447 | Natera, Inc. | no assertion criteria provided | Uncertain significance (Feb 4, 2020) | germline | clinical testing | |
| SCV003835547 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Oct 22, 2022) | unknown | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | unknown | yes | not provided | 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 |
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, phenotyping only |
Citations
PubMed
Forty-eight novel mutations causing biotinidase deficiency.
Procter M, Wolf B, Mao R.
Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.
PubMed [citation]
- PMID:
- 26810761
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
PubMed [citation]
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From GenomeConnect, ClinGen, SCV000607107.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | phenotyping only | not provided |
Description
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
| # | 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000943282.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 43 of the BTD protein (p.His43Arg). This variant is present in population databases (rs146011150, gnomAD 0.07%). This missense change has been observed in individual(s) with a positive newborn screening result for BTD-related disease (PMID: 26810761). ClinVar contains an entry for this variant (Variation ID: 38483). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001440042.1
| # | 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 | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Natera, Inc., SCV001454447.1
| # | 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 Baylor Genetics, SCV003835547.1
| # | 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: Nov 10, 2024