NM_005518.4(HMGCS2):c.*233_*240del AND not provided

NM_005518.4(HMGCS2):c.233_240del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 24, 2020
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:: RCV001570051.3

Allele description [Variation Report for NM_005518.4(HMGCS2):c.233_240del]

NM_005518.4(HMGCS2):c.233_240del

Gene:

HMGCS2:3-hydroxy-3-methylglutaryl-CoA synthase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p12

Genomic location:

Preferred name:

NM_005518.4(HMGCS2):c.*233_*240del

HGVS:

NC_000001.11:g.119748607_119748614del
NG_013348.1:g.25319_25326del
NM_001166107.1:c.*233_*240del
NM_005518.4:c.*233_*240delMANE SELECT
LRG_447t2:c.*233_*240del
LRG_447:g.25319_25326del
NC_000001.10:g.120291230_120291237del

Links:

dbSNP: rs200828254

NCBI 1000 Genomes Browser:

rs200828254

Molecular consequence:

NM_001166107.1:c.*233_*240del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_005518.4:c.*233_*240del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001794250	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001794250

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 24, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001794250.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine