NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Aug 2, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001584471.22

Allele description

NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)

Gene:

KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

Preferred name:

NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)

HGVS:

NC_000010.11:g.77637627C>T
NG_012270.1:g.5193G>A
NM_001014797.3:c.16G>A
NM_001161352.2:c.16G>AMANE SELECT
NM_001161353.2:c.16G>A
NM_001271518.2:c.16G>A
NM_001271519.2:c.16G>A
NM_001271520.2:c.16G>A
NM_001271521.2:c.16G>A
NM_001271522.2:c.16G>A
NM_001322829.2:c.16G>A
NM_001322830.2:c.16G>A
NM_001322832.2:c.16G>A
NM_001322835.2:c.16G>A
NM_001322836.2:c.16G>A
NM_001322837.2:c.16G>A
NM_001322839.2:c.16G>A
NM_002247.4:c.16G>A
NP_001014797.1:p.Gly6Ser
NP_001154824.1:p.Gly6Ser
NP_001154825.1:p.Gly6Ser
NP_001258447.1:p.Gly6Ser
NP_001258448.1:p.Gly6Ser
NP_001258449.1:p.Gly6Ser
NP_001258450.1:p.Gly6Ser
NP_001258451.1:p.Gly6Ser
NP_001309758.1:p.Gly6Ser
NP_001309759.1:p.Gly6Ser
NP_001309761.1:p.Gly6Ser
NP_001309764.1:p.Gly6Ser
NP_001309765.1:p.Gly6Ser
NP_001309766.1:p.Gly6Ser
NP_001309768.1:p.Gly6Ser
NP_002238.2:p.Gly6Ser
NC_000010.10:g.79397385C>T
NM_001014797.2:c.16G>A
NM_002247.3:c.16G>A

Protein change:

G6S

Links:

dbSNP: rs914048941

NCBI 1000 Genomes Browser:

rs914048941

Molecular consequence:

NM_001014797.3:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161352.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001161353.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271518.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271519.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271520.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271521.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271522.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322829.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322830.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322832.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322835.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322836.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322837.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322839.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002247.4:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gene ID:84957

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001813650	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 31, 2019)	germline	clinical testing	Citation Link,
SCV002062926	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Dec 1, 2021)	germline	clinical testing	Citation Link,
SCV004235872	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001813650

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 31, 2019)

germline

clinical testing

Citation Link,

SCV002062926

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(Dec 1, 2021)

germline

clinical testing

Citation Link,

SCV004235872

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 2, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV001813650.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002062926.16

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

From Revvity Omics, Revvity, SCV004235872.1

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

#	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: Jun 23, 2024

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