NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs) AND Long QT syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 8, 2024
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:: RCV003318432.3

Allele description [Variation Report for NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)]

NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)

Gene:

CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)

HGVS:

NC_000001.11:g.201040358del
NG_009816.2:g.77210del
NM_000069.3:c.5244delMANE SELECT
NP_000060.2:p.Ser1749fs
NC_000001.10:g.201009486del

Protein change:

S1749fs

Molecular consequence:

NM_000069.3:c.5244del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004021971	Dept of Medical Biology, Uskudar University	criteria provided, single submitter (Dept of Medical Biology Variant Classification)	Likely pathogenic (Jan 8, 2024)	paternal	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004021971

Dept of Medical Biology, Uskudar University

criteria provided, single submitter

(Dept of Medical Biology Variant Classification)

Likely pathogenic
(Jan 8, 2024)

paternal

research

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Turkish	paternal	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Dept of Medical Biology, Uskudar University, SCV004021971.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Turkish	1	not provided	not provided	research	not provided

Description

Criteria: PVS1_Strong, PM2

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

Last Updated: Feb 4, 2024

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