U.S. flag

An official website of the United States government

NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) AND Biotinidase deficiency

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 4, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000021920.5

Allele description [Variation Report for NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)]

NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
HGVS:
  • NC_000003.12:g.15641962A>G
  • NG_008019.2:g.45611A>G
  • NM_000060.4:c.364A>G
  • NM_001281723.4:c.304A>G
  • NM_001281724.3:c.304A>G
  • NM_001281725.3:c.304A>G
  • NM_001281726.3:c.304A>G
  • NM_001323582.2:c.304A>G
  • NM_001370658.1:c.304A>GMANE SELECT
  • NM_001370752.1:c.304A>G
  • NM_001370753.1:c.304A>G
  • NM_001407364.1:c.304A>G
  • NM_001407365.1:c.304A>G
  • NM_001407366.1:c.304A>G
  • NM_001407367.1:c.304A>G
  • NM_001407368.1:c.304A>G
  • NM_001407369.1:c.304A>G
  • NM_001407370.1:c.304A>G
  • NM_001407371.1:c.304A>G
  • NM_001407372.1:c.304A>G
  • NM_001407373.1:c.304A>G
  • NM_001407374.1:c.304A>G
  • NM_001407375.1:c.304A>G
  • NM_001407376.1:c.304A>G
  • NM_001407377.1:c.304A>G
  • NM_001407378.1:c.304A>G
  • NM_001407379.1:c.304A>G
  • NM_001407380.1:c.304A>G
  • NM_001407381.1:c.367A>G
  • NM_001407382.1:c.304A>G
  • NM_001407383.1:c.304A>G
  • NM_001407384.1:c.304A>G
  • NM_001407386.1:c.304A>G
  • NM_001407388.1:c.304A>G
  • NM_001407390.1:c.304A>G
  • NM_001407392.1:c.304A>G
  • NM_001407394.1:c.304A>G
  • NM_001407395.1:c.304A>G
  • NM_001407396.1:c.304A>G
  • NM_001407397.1:c.304A>G
  • NM_001407398.1:c.304A>G
  • NM_001407399.1:c.304A>G
  • NM_001407400.1:c.304A>G
  • NM_001407401.1:c.304A>G
  • NP_000051.1:p.Arg122Gly
  • NP_001268652.2:p.Arg102Gly
  • NP_001268652.2:p.Arg102Gly
  • NP_001268653.2:p.Arg102Gly
  • NP_001268654.1:p.Arg102Gly
  • NP_001268654.1:p.Arg102Gly
  • NP_001268655.2:p.Arg102Gly
  • NP_001268655.2:p.Arg102Gly
  • NP_001310511.1:p.Arg102Gly
  • NP_001310511.1:p.Arg102Gly
  • NP_001357587.1:p.Arg102Gly
  • NP_001357681.1:p.Arg102Gly
  • NP_001357682.1:p.Arg102Gly
  • NP_001394293.1:p.Arg102Gly
  • NP_001394294.1:p.Arg102Gly
  • NP_001394295.1:p.Arg102Gly
  • NP_001394296.1:p.Arg102Gly
  • NP_001394297.1:p.Arg102Gly
  • NP_001394298.1:p.Arg102Gly
  • NP_001394299.1:p.Arg102Gly
  • NP_001394300.1:p.Arg102Gly
  • NP_001394301.1:p.Arg102Gly
  • NP_001394302.1:p.Arg102Gly
  • NP_001394303.1:p.Arg102Gly
  • NP_001394304.1:p.Arg102Gly
  • NP_001394305.1:p.Arg102Gly
  • NP_001394306.1:p.Arg102Gly
  • NP_001394307.1:p.Arg102Gly
  • NP_001394308.1:p.Arg102Gly
  • NP_001394309.1:p.Arg102Gly
  • NP_001394310.1:p.Arg123Gly
  • NP_001394311.1:p.Arg102Gly
  • NP_001394312.1:p.Arg102Gly
  • NP_001394313.1:p.Arg102Gly
  • NP_001394315.1:p.Arg102Gly
  • NP_001394317.1:p.Arg102Gly
  • NP_001394319.1:p.Arg102Gly
  • NP_001394321.1:p.Arg102Gly
  • NP_001394323.1:p.Arg102Gly
  • NP_001394324.1:p.Arg102Gly
  • NP_001394325.1:p.Arg102Gly
  • NP_001394326.1:p.Arg102Gly
  • NP_001394327.1:p.Arg102Gly
  • NP_001394328.1:p.Arg102Gly
  • NP_001394329.1:p.Arg102Gly
  • NP_001394330.1:p.Arg102Gly
  • NC_000003.11:g.15683469A>G
  • NM_001281723.3:c.304A>G
  • NM_001281724.1:c.370A>G
  • NM_001281725.2:c.304A>G
  • NM_001281726.2:c.304A>G
  • NM_001323582.1:c.304A>G
Protein change:
R102G
Links:
dbSNP: rs397514354
NCBI 1000 Genomes Browser:
rs397514354
Molecular consequence:
  • NM_000060.4:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.304A>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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800689Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Apr 2, 2018) 		unknownclinical testing

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

Citation Link,

SCV002518618Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

Norrgard KJ, Pomponio RJ, Hymes J, Wolf B.

Pediatr Res. 1999 Jul;46(1):20-7.

PubMed [citation]
PMID:
10400129

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.

Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.

PubMed [citation]
PMID:
27329734
PMCID:
PMC5027693
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000800689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV002518618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024