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NM_006888.6(CALM1):c.303C>T (p.Ile101=) AND not specified

Germline classification:
Benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001700161.4

Allele description

NM_006888.6(CALM1):c.303C>T (p.Ile101=)

Gene:
CALM1:calmodulin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_006888.6(CALM1):c.303C>T (p.Ile101=)
HGVS:
  • NC_000014.9:g.90404396C>T
  • NG_013338.1:g.12414C>T
  • NM_001363669.2:c.195C>T
  • NM_001363670.2:c.306C>T
  • NM_006888.6:c.303C>TMANE SELECT
  • NP_001350598.1:p.Ile65=
  • NP_001350599.1:p.Ile102=
  • NP_008819.1:p.Ile101=
  • NC_000014.8:g.90870740C>T
  • NM_006888.4:c.303C>T
Links:
dbSNP: rs143503733
NCBI 1000 Genomes Browser:
rs143503733
Molecular consequence:
  • NM_001363669.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363670.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006888.6:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001921702Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001959993Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001921702.1

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001959993.1

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

Last Updated: May 19, 2024