NM_006888.6(CALM1):c.88A>C (p.Thr30Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 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:: RCV000431318.1

Allele description [Variation Report for NM_006888.6(CALM1):c.88A>C (p.Thr30Pro)]

NM_006888.6(CALM1):c.88A>C (p.Thr30Pro)

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.88A>C (p.Thr30Pro)

HGVS:

NC_000014.9:g.90401312A>C
NG_013338.1:g.9330A>C
NM_001363669.2:c.-21A>C
NM_001363670.2:c.91A>C
NM_006888.6:c.88A>CMANE SELECT
NP_001350599.1:p.Thr31Pro
NP_008819.1:p.Thr30Pro
NC_000014.8:g.90867656A>C
NM_006888.4:c.88A>C

Protein change:

T30P

Links:

dbSNP: rs1057521851

NCBI 1000 Genomes Browser:

rs1057521851

Molecular consequence:

NM_001363669.2:c.-21A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363670.2:c.91A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006888.6:c.88A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000524774	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Mar 2, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000524774

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Mar 2, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000524774.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The T30P variant in the CALM1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T30P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T30P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The T30P variant is a strong candidate for a pathogenic variant, however, the possibility it may be a rare benign variant cannot be excluded.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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