NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 1, 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:: RCV000996788.17

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)]

NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)

Other names:

NP_001120693.1,p.Lys1139fs

HGVS:

NC_000019.10:g.13286651dup
NG_011569.1:g.224816dup
NM_000068.4:c.3423dup
NM_001127221.2:c.3414dup
NM_001127222.2:c.3411dupMANE SELECT
NM_001174080.2:c.3414dup
NM_023035.3:c.3423dup
NP_000059.3:p.Lys1142fs
NP_001120693.1:p.Lys1139fs
NP_001120694.1:p.Lys1138fs
NP_001167551.1:p.Lys1139fs
NP_075461.2:p.Lys1142fs
LRG_7:g.224816dup
NC_000019.9:g.13397458_13397459insG
NC_000019.9:g.13397465dup
NM_001127221.2:c.3414dupC

Protein change:

K1138fs

Links:

dbSNP: rs746790849

NCBI 1000 Genomes Browser:

rs746790849

Molecular consequence:

NM_000068.4:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127221.2:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127222.2:c.3411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001174080.2:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_023035.3:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV001151710	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Apr 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001151710

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Apr 1, 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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001151710.22

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

Last Updated: May 12, 2024

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