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

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 18, 2016
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:
RCV000618235.3

Allele description [Variation Report for NM_006888.6(CALM1):c.303C>T (p.Ile101=)]

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)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737856Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 18, 2016) 		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, SCV000737856.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024