NM_201596.3(CACNB2):c.*35del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 22, 2019
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:: RCV001540984.2

Allele description [Variation Report for NM_201596.3(CACNB2):c.*35del]

NM_201596.3(CACNB2):c.*35del

Gene:

CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_201596.3(CACNB2):c.*35del

HGVS:

NC_000010.11:g.18539759del
NG_016195.1:g.404083del
NM_000724.4:c.*35del
NM_001167945.2:c.*35del
NM_001330060.2:c.*35del
NM_201570.3:c.*35del
NM_201571.4:c.*35del
NM_201572.4:c.*35del
NM_201590.3:c.*35del
NM_201593.3:c.*35del
NM_201596.3:c.*35delMANE SELECT
NM_201597.3:c.*35del
LRG_381t1:c.*35del
LRG_381t2:c.*35del
LRG_381:g.404083del
NC_000010.10:g.18828688del
NM_000724.3:c.*18delT

Links:

dbSNP: rs34022725

NCBI 1000 Genomes Browser:

rs34022725

Molecular consequence:

NM_000724.4:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001167945.2:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001330060.2:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201570.3:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201571.4:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201572.4:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201590.3:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201593.3:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201596.3:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201597.3:c.*35del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001758929	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 22, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001758929

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 22, 2019)

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, SCV001758929.1

#	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: Sep 17, 2022

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