NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 6, 2012
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:: RCV000036330.5

Allele description [Variation Report for NM_001018005.2(TPM1):c.423G>C (p.Met141Ile)]

NM_001018005.2(TPM1):c.423G>C (p.Met141Ile)

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.423G>C (p.Met141Ile)

HGVS:

NC_000015.10:g.63059611G>C
NG_007557.1:g.21973G>C
NM_000366.6:c.423G>C
NM_001018004.2:c.423G>C
NM_001018005.2:c.423G>CMANE SELECT
NM_001018006.2:c.423G>C
NM_001018007.2:c.423G>C
NM_001018008.2:c.315G>C
NM_001018020.2:c.423G>C
NM_001301244.2:c.423G>C
NM_001301289.2:c.315G>C
NM_001330344.2:c.315G>C
NM_001330346.2:c.315G>C
NM_001330351.2:c.315G>C
NM_001365776.1:c.423G>C
NM_001365777.1:c.423G>C
NM_001365778.1:c.549G>C
NM_001365779.1:c.423G>C
NM_001365780.1:c.315G>C
NM_001365781.2:c.315G>C
NM_001365782.1:c.315G>C
NP_000357.3:p.Met141Ile
NP_001018004.1:p.Met141Ile
NP_001018005.1:p.Met141Ile
NP_001018006.1:p.Met141Ile
NP_001018007.1:p.Met141Ile
NP_001018008.1:p.Met105Ile
NP_001018020.1:p.Met141Ile
NP_001288173.1:p.Met141Ile
NP_001288218.1:p.Met105Ile
NP_001317273.1:p.Met105Ile
NP_001317275.1:p.Met105Ile
NP_001317280.1:p.Met105Ile
NP_001352705.1:p.Met141Ile
NP_001352706.1:p.Met141Ile
NP_001352707.1:p.Met183Ile
NP_001352708.1:p.Met141Ile
NP_001352709.1:p.Met105Ile
NP_001352710.1:p.Met105Ile
NP_001352711.1:p.Met105Ile
LRG_387t1:c.423G>C
LRG_387:g.21973G>C
LRG_387p1:p.Met141Ile
NC_000015.9:g.63351810G>C
NM_000366.5:c.423G>C
c.423G>C

Protein change:

M105I

Links:

dbSNP: rs397516371

NCBI 1000 Genomes Browser:

rs397516371

Molecular consequence:

NM_000366.6:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018004.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018005.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018006.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018007.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018008.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001018020.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001301244.2:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001301289.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330344.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330346.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330351.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365776.1:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365777.1:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365778.1:c.549G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365779.1:c.423G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365780.1:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365781.2:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001365782.1:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059982	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Jan 6, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059982

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Jan 6, 2012)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059982.6

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

Description

The Met141Ile variant has not been reported in the literature but has been detec ted in 1individual with DCM out of >1,900 Caucasian individuals tested by our la boratory. Parental testing suggested that the variant occurred de novo in this individual, which provides strong support for a pathogenic role. Consistent wit h this, methionine (Met) at position 141 is conserved across evolutionary distan t species, suggesting that a change would not be tolerated.

#	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

Last Updated: Apr 6, 2024

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