NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Feb 28, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000734743.2

Allele description [Variation Report for NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)]

NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)

Gene:
KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
HGVS:
  • NC_000010.11:g.77637508GGA[5]
  • NG_012270.1:g.5294CTC[5]
  • NM_001014797.3:c.117CTC[5]
  • NM_001161352.2:c.117CTC[5]MANE SELECT
  • NM_001161353.2:c.117CTC[5]
  • NM_001271518.2:c.117CTC[5]
  • NM_001271519.2:c.117CTC[5]
  • NM_001271520.2:c.117CTC[5]
  • NM_001271521.2:c.117CTC[5]
  • NM_001271522.2:c.117CTC[5]
  • NM_001322829.2:c.117CTC[5]
  • NM_001322830.2:c.117CTC[5]
  • NM_001322832.2:c.117CTC[5]
  • NM_001322835.2:c.117CTC[5]
  • NM_001322836.2:c.117CTC[5]
  • NM_001322837.2:c.117CTC[5]
  • NM_001322839.2:c.117CTC[5]
  • NM_002247.4:c.117CTC[5]
  • NP_001014797.1:p.Ser59_Ser60del
  • NP_001154824.1:p.Ser59_Ser60del
  • NP_001154825.1:p.Ser59_Ser60del
  • NP_001258447.1:p.Ser59_Ser60del
  • NP_001258448.1:p.Ser59_Ser60del
  • NP_001258449.1:p.Ser59_Ser60del
  • NP_001258450.1:p.Ser59_Ser60del
  • NP_001258451.1:p.Ser59_Ser60del
  • NP_001309758.1:p.Ser59_Ser60del
  • NP_001309759.1:p.Ser59_Ser60del
  • NP_001309761.1:p.Ser59_Ser60del
  • NP_001309764.1:p.Ser59_Ser60del
  • NP_001309765.1:p.Ser59_Ser60del
  • NP_001309766.1:p.Ser59_Ser60del
  • NP_001309768.1:p.Ser59_Ser60del
  • NP_002238.2:p.Ser59_Ser60del
  • NC_000010.10:g.79397264_79397269del
  • NC_000010.10:g.79397266GGA[5]
  • NM_002247.3:c.132_137del
  • NM_002247.3:c.132_137delCTCCTC
Links:
dbSNP: rs572827902
NCBI 1000 Genomes Browser:
rs572827902
Molecular consequence:
  • NM_001014797.3:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001161352.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001161353.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001271518.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001271519.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001271520.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001271521.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001271522.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322829.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322830.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322832.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322835.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322836.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322837.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001322839.2:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_002247.4:c.117CTC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000862909EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Aug 20, 2018)
germlineclinical testing

Citation Link,

SCV001476646Athena Diagnostics Inccriteria provided, single submitter
Benign
(Feb 28, 2020)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000862909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001476646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 6, 2021

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