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NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jan 1, 2023
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:
RCV000389934.29

Allele description [Variation Report for NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)]

NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)

Gene:
ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
HGVS:
  • NC_000010.11:g.123040605C>T
  • NG_008003.1:g.36693C>T
  • NM_001330174.3:c.137C>T
  • NM_001609.4:c.443C>TMANE SELECT
  • NP_001317103.1:p.Thr46Ile
  • NP_001600.1:p.Thr148Ile
  • NP_001600.1:p.Thr148Ile
  • LRG_451t1:c.443C>T
  • LRG_451:g.36693C>T
  • LRG_451p1:p.Thr148Ile
  • NC_000010.10:g.124800121C>T
  • NM_001609.3:c.443C>T
Protein change:
T148I; THR148ILE
Links:
OMIM: 600301.0004; dbSNP: rs58639322
NCBI 1000 Genomes Browser:
rs58639322
Molecular consequence:
  • NM_001330174.3:c.137C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001609.4:c.443C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001247458CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Jan 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000341243.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001247458.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

ACADSB: PM3:Strong, PM2, PP4:Moderate, PS3:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000341243Eurofins Ntd Llc (ga)
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)		Uncertain significance
(Apr 8, 2016) 		germlineclinical testing

Citation Link

Last Updated: Nov 30, 2024