NM_001743.6(CALM2):c.328A>T (p.Met110Leu) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: May 11, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624723.1

Allele description [Variation Report for NM_001743.6(CALM2):c.328A>T (p.Met110Leu)]

NM_001743.6(CALM2):c.328A>T (p.Met110Leu)

Gene:
CALM2:calmodulin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001743.6(CALM2):c.328A>T (p.Met110Leu)
HGVS:
  • NC_000002.12:g.47161816T>A
  • NG_042065.1:g.20121A>T
  • NM_001305624.1:c.472A>T
  • NM_001305625.2:c.220A>T
  • NM_001305626.1:c.220A>T
  • NM_001743.6:c.328A>TMANE SELECT
  • NP_001292553.1:p.Met158Leu
  • NP_001292554.1:p.Met74Leu
  • NP_001292555.1:p.Met74Leu
  • NP_001734.1:p.Met110Leu
  • NC_000002.11:g.47388955T>A
  • NM_001743.4:c.328A>T
Protein change:
M110L
Links:
dbSNP: rs1553431711
NCBI 1000 Genomes Browser:
rs1553431711
Molecular consequence:
  • NM_001305624.1:c.472A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305625.2:c.220A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305626.1:c.220A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001743.6:c.328A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740876Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 11, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewishgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740876.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi Jewish1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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