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NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV002214276.19

Allele description [Variation Report for NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)]

NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
HGVS:
  • NC_000003.12:g.15645127G>C
  • NG_008019.2:g.48776G>C
  • NG_008019.3:g.48777G>C
  • NM_000060.4:c.1271G>C
  • NM_001281723.4:c.1211G>C
  • NM_001281724.3:c.1211G>C
  • NM_001281725.3:c.1211G>C
  • NM_001323582.2:c.1211G>C
  • NM_001370658.1:c.1211G>CMANE SELECT
  • NM_001370752.1:c.1015+196G>C
  • NM_001370753.1:c.399+3070G>C
  • NM_001407364.1:c.1211G>C
  • NM_001407365.1:c.1211G>C
  • NM_001407366.1:c.1211G>C
  • NM_001407367.1:c.1211G>C
  • NM_001407368.1:c.1211G>C
  • NM_001407369.1:c.1211G>C
  • NM_001407370.1:c.1211G>C
  • NM_001407371.1:c.1211G>C
  • NM_001407372.1:c.1211G>C
  • NM_001407373.1:c.1211G>C
  • NM_001407374.1:c.1211G>C
  • NM_001407375.1:c.1211G>C
  • NM_001407376.1:c.1211G>C
  • NM_001407377.1:c.1211G>C
  • NM_001407378.1:c.1211G>C
  • NP_000051.1:p.Cys424Ser
  • NP_001268652.2:p.Cys404Ser
  • NP_001268652.2:p.Cys404Ser
  • NP_001268653.2:p.Cys404Ser
  • NP_001268654.1:p.Cys404Ser
  • NP_001268654.1:p.Cys404Ser
  • NP_001310511.1:p.Cys404Ser
  • NP_001310511.1:p.Cys404Ser
  • NP_001357587.1:p.Cys404Ser
  • NP_001394293.1:p.Cys404Ser
  • NP_001394294.1:p.Cys404Ser
  • NP_001394295.1:p.Cys404Ser
  • NP_001394296.1:p.Cys404Ser
  • NP_001394297.1:p.Cys404Ser
  • NP_001394298.1:p.Cys404Ser
  • NP_001394299.1:p.Cys404Ser
  • NP_001394300.1:p.Cys404Ser
  • NP_001394301.1:p.Cys404Ser
  • NP_001394302.1:p.Cys404Ser
  • NP_001394303.1:p.Cys404Ser
  • NP_001394304.1:p.Cys404Ser
  • NP_001394305.1:p.Cys404Ser
  • NP_001394306.1:p.Cys404Ser
  • NP_001394307.1:p.Cys404Ser
  • NC_000003.11:g.15686634G>C
  • NM_001281723.3:c.1211G>C
  • NM_001281725.2:c.1211G>C
  • NM_001323582.1:c.1211G>C
  • NM_001370658.1:c.1211G>C
Protein change:
C404S
Links:
dbSNP: rs397514335
NCBI 1000 Genomes Browser:
rs397514335
Molecular consequence:
  • NM_001370752.1:c.1015+196G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3070G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1271G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1211G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002496791CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002496791.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

BTD: PS3, PM1, PM2, PM5, PS4:Moderate, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024