NM_001609.4(ACADSB):c.1228+20_1228+21del AND Deficiency of 2-methylbutyryl-CoA dehydrogenase

Clinical significance:Benign/Likely benign (Last evaluated: Sep 29, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000376861.3

Allele description [Variation Report for NM_001609.4(ACADSB):c.1228+20_1228+21del]

NM_001609.4(ACADSB):c.1228+20_1228+21del

Gene:
ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_001609.4(ACADSB):c.1228+20_1228+21del
HGVS:
  • NC_000010.11:g.123053180_123053181del
  • NG_008003.1:g.49268_49269del
  • NM_001330174.2:c.922+20_922+21del
  • NM_001609.4:c.1228+20_1228+21delMANE SELECT
  • LRG_451:g.49268_49269del
  • NC_000010.10:g.124812686_124812687del
  • NC_000010.10:g.124812696_124812697del
  • NM_001609.3:c.1228+20_1228+21delTT
Links:
dbSNP: rs11307362
NCBI 1000 Genomes Browser:
rs11307362
Molecular consequence:
  • NM_001330174.2:c.922+20_922+21del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001609.4:c.1228+20_1228+21del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Deficiency of 2-methylbutyryl-CoA dehydrogenase (ACADSB)
Synonyms:
2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD deficiency; 2-methylbutyric aciduria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012392; MedGen: C1864912; Orphanet: 79157; OMIM: 610006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000361261Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001719889Invitaecriteria provided, single submitter
Benign
(Sep 29, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000361261.2

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

From Invitae, SCV001719889.1

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

Last Updated: Sep 29, 2021

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