NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 2, 2012
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:: RCV000036369.7

Allele description [Variation Report for NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)]

NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)

HGVS:

NC_000015.10:g.63064136C>G
NG_007557.1:g.26498C>G
NM_000366.6:c.845C>G
NM_001018004.2:c.772+1491C>G
NM_001018005.2:c.845C>GMANE SELECT
NM_001018006.2:c.772+1491C>G
NM_001018007.2:c.772+1491C>G
NM_001018008.2:c.664+1491C>G
NM_001018020.2:c.772+1491C>G
NM_001301244.2:c.845C>G
NM_001301289.2:c.664+1491C>G
NM_001330344.2:c.664+1491C>G
NM_001330346.2:c.737C>G
NM_001330351.2:c.664+1491C>G
NM_001365776.1:c.772+1491C>G
NM_001365777.1:c.772+1491C>G
NM_001365778.1:c.898+1491C>G
NM_001365779.1:c.845C>G
NM_001365780.1:c.664+1491C>G
NM_001365781.2:c.737C>G
NM_001365782.1:c.737C>G
NP_000357.3:p.Thr282Ser
NP_001018005.1:p.Thr282Ser
NP_001288173.1:p.Thr282Ser
NP_001317275.1:p.Thr246Ser
NP_001352708.1:p.Thr282Ser
NP_001352710.1:p.Thr246Ser
NP_001352711.1:p.Thr246Ser
LRG_387t1:c.845C>G
LRG_387:g.26498C>G
LRG_387p1:p.Thr282Ser
NC_000015.9:g.63356335C>G
NM_000366.5:c.845C>G
NM_001018005.1:c.845C>G
NM_001301244.1:c.845C>G
c.845C>G

Protein change:

T246S

Links:

dbSNP: rs397516395

NCBI 1000 Genomes Browser:

rs397516395

Molecular consequence:

NM_001018004.2:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001018006.2:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001018007.2:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001018008.2:c.664+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001018020.2:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001301289.2:c.664+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330344.2:c.664+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330351.2:c.664+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001365776.1:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001365777.1:c.772+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001365778.1:c.898+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001365780.1:c.664+1491C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000366.6:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018005.2:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001301244.2:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330346.2:c.737C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365779.1:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365781.2:c.737C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365782.1:c.737C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060021	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Uncertain significance (Mar 1, 2008)	germline	clinical testing
SCV000280547	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Uncertain significance (Dec 2, 2012)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060021

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Uncertain significance
(Mar 1, 2008)

germline

clinical testing

SCV000280547

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Uncertain significance
(Dec 2, 2012)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060021.5

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

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

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280547.1

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

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Thr282Ser (c.845C>G) in the TPM1 gene was identified. This variant is novel. It has not been reported in association with disease nor as a common polymorphism. This is a conserved amino acid change of a polar Threonine replaced with a polar Serine. Threonine is highly conserved across species at position 282 in the TPM1 gene. A variant in a neighboring codon (Met281Thr) has been reported in association with Hypertrophic Cardiomyopathy (van Driest et al 2003). There are no other reported variants associated with disease in this region. In silico analysis predicts the amino acid change to be benign to protein function (PolyPhen 2). This variant was not observed in 100 presumably healthy control individuals of Caucasian descent at GeneDx. Additionally GeneDx did note the presence of the variant in a patient who was tested for HCM, this individual also carried a disease causing variant in a different sarcomere gene. The variant is not listed in either dbSNP or 1000 genomes (as of July 5th, 2011).

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

Last Updated: Sep 29, 2024

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