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NM_001370658.1(BTD):c.68A>G (p.His23Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2022
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:
RCV002513289.9

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
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)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003698460Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From Ambry Genetics, SCV003698460.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.128A>G (p.H43R) alteration is located in exon 2 (coding exon 2) of the BTD gene. This alteration results from a A to G substitution at nucleotide position 128, causing the histidine (H) at amino acid position 43 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024