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NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2022
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:
RCV002533245.4

Allele description [Variation Report for NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)]

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]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003674387Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003674387.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.16G>A (p.G6S) alteration is located in exon 1 (coding exon 1) of the KCNMA1 gene. This alteration results from a G to A substitution at nucleotide position 16, causing the glycine (G) at amino acid position 6 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024