NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) AND Inborn genetic diseases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 28, 2021
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:: RCV002536537.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)]

NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)

HGVS:

NC_000019.10:g.13207565_13207570del
NG_011569.1:g.303893_303898del
NM_000068.4:c.*478_*483del
NM_001127221.1:c.*478_*483delCAGCGG
NM_001127221.2:c.*478_*483del
NM_001127222.2:c.7266_7271delMANE SELECT
NM_001174080.2:c.*478_*483del
NM_023035.3:c.7284_7289del
NP_001120694.1:p.Ser2423_Gly2424del
NP_075461.2:p.Ser2429_Gly2430del
LRG_7t1:c.*478_*483del
LRG_7:g.303893_303898del
NC_000019.9:g.13318377_13318382delCCGCTG
NC_000019.9:g.13318379_13318384del
NM_001127222.1:c.7266_7271del6
NM_001127222.2:c.7266_7271del
NM_023035.2:c.7284_7289delCAGCGG

Links:

dbSNP: rs775428832

Molecular consequence:

NM_000068.4:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001127221.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174080.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001127222.2:c.7266_7271del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_023035.3:c.7284_7289del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003690400	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Dec 28, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003690400

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Dec 28, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003690400.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jul 27, 2026

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