NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2017
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:: RCV000757052.8

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)]

NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)

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.2904_2929del (p.Pro969fs)

HGVS:

NC_000019.10:g.13298710_13298735del
NG_011569.1:g.212732_212757del
NM_000068.4:c.2916_2941del
NM_001127221.2:c.2907_2932del
NM_001127222.2:c.2904_2929delMANE SELECT
NM_001174080.2:c.2907_2932del
NM_023035.3:c.2916_2941del
NP_000059.3:p.Pro973fs
NP_001120693.1:p.Pro970fs
NP_001120693.1:p.Pro970fs
NP_001120694.1:p.Pro969fs
NP_001167551.1:p.Pro970fs
NP_075461.2:p.Pro973fs
LRG_7t1:c.2907_2932del
LRG_7:g.212732_212757del
LRG_7p1:p.Pro970fs
NC_000019.9:g.13409518_13409543del
NC_000019.9:g.13409524_13409549del
NM_001127221.1:c.2907_2932del
NM_001127221.1:c.2907_2932delTCCGGAGGACAAGGCGGAGCGGAGGG
p.Pro970fs

Protein change:

P969fs

Links:

dbSNP: rs1555755909

NCBI 1000 Genomes Browser:

rs1555755909

Molecular consequence:

NM_000068.4:c.2916_2941del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127221.2:c.2907_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127222.2:c.2904_2929del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001174080.2:c.2907_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_023035.3:c.2916_2941del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000885135	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (May 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885135

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(May 16, 2017)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885135.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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