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NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 2024
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:
RCV002281714.2

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002571928Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Aug 1, 2024)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B.

Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.

PubMed [citation]
PMID:
25144890

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 (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002571928.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BTD c.1145A>G (p.Asn382Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00017 in 251392 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in BTD causing Biotinidase Deficiency (0.00017 vs 0.0046), allowing no conclusion about variant significance. c.1145A>G has been reported in the literature as a compound heterozygous genotype with partial biotinidase deficiency or a presumably compound heterozygous genotype in settings of newborn screening workup among individuals affected with Partial Biotinidase Deficiency (e.g. Ohlsson_2010, Jay_2015, Sharma_2024). These report(s) do not provide unequivocal conclusions about association of the variant with Biotinidase Deficiency. 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: 25144890, 20224900, 38299772). ClinVar contains an entry for this variant (Variation ID: 25062). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 26, 2024