NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Aug 19, 2016)

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:
RCV000295616.2

Allele description [Variation Report for NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)]

NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)

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.1320C>T (p.Ile440=)
HGVS:
  • NC_000010.11:g.77090414G>A
  • NG_012270.1:g.552406C>T
  • NM_001014797.3:c.1320C>T
  • NM_001161352.2:c.1320C>TMANE SELECT
  • NM_001161353.2:c.1320C>T
  • NM_001271518.2:c.1158C>T
  • NM_001271519.2:c.1320C>T
  • NM_001322829.2:c.1320C>T
  • NM_001322830.2:c.1320C>T
  • NM_001322832.2:c.1320C>T
  • NM_001322835.2:c.1320C>T
  • NM_001322836.2:c.1320C>T
  • NM_001322837.2:c.1320C>T
  • NM_001322838.2:c.780C>T
  • NM_002247.4:c.1320C>T
  • NP_001014797.1:p.Ile440=
  • NP_001154824.1:p.Ile440=
  • NP_001154825.1:p.Ile440=
  • NP_001258447.1:p.Ile386=
  • NP_001258448.1:p.Ile440=
  • NP_001309758.1:p.Ile440=
  • NP_001309759.1:p.Ile440=
  • NP_001309761.1:p.Ile440=
  • NP_001309764.1:p.Ile440=
  • NP_001309765.1:p.Ile440=
  • NP_001309766.1:p.Ile440=
  • NP_001309767.1:p.Ile260=
  • NP_002238.2:p.Ile440=
  • NC_000010.10:g.78850172G>A
  • NM_001014797.2:c.1320C>T
  • NM_001322830.1:c.1320C>T
  • NM_002247.3:c.1320C>T
  • p.Ile440Ile
Links:
dbSNP: rs45617636
NCBI 1000 Genomes Browser:
rs45617636
Molecular consequence:
  • NM_001014797.3:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001161352.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001161353.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271518.2:c.1158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271519.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322829.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322830.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322832.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322835.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322836.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322837.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322838.2:c.780C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002247.4:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000343989EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jul 29, 2016)
germlineclinical testing

Citation Link,

SCV000613869Athena Diagnostics Inccriteria provided, single submitter
Benign
(Aug 19, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not 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, SCV000343989.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics Inc, SCV000613869.1

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

Last Updated: Nov 27, 2021

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