NM_001018005.2(TPM1):c.276C>G (p.Ile92Met) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 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:: RCV000159408.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.276C>G (p.Ile92Met)]

NM_001018005.2(TPM1):c.276C>G (p.Ile92Met)

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.276C>G (p.Ile92Met)

Other names:

p.I92M:ATC>ATG

HGVS:

NC_000015.10:g.63057020C>G
NG_007557.1:g.19382C>G
NM_000366.6:c.276C>G
NM_001018004.2:c.276C>G
NM_001018005.2:c.276C>GMANE SELECT
NM_001018006.2:c.276C>G
NM_001018007.2:c.276C>G
NM_001018008.2:c.168C>G
NM_001018020.2:c.276C>G
NM_001301244.2:c.276C>G
NM_001301289.2:c.168C>G
NM_001330344.2:c.168C>G
NM_001330346.2:c.168C>G
NM_001330351.2:c.168C>G
NM_001365776.1:c.276C>G
NM_001365777.1:c.276C>G
NM_001365778.1:c.402C>G
NM_001365779.1:c.276C>G
NM_001365780.1:c.168C>G
NM_001365781.2:c.168C>G
NM_001365782.1:c.168C>G
NP_000357.3:p.Ile92Met
NP_001018004.1:p.Ile92Met
NP_001018005.1:p.Ile92Met
NP_001018006.1:p.Ile92Met
NP_001018007.1:p.Ile92Met
NP_001018008.1:p.Ile56Met
NP_001018020.1:p.Ile92Met
NP_001288173.1:p.Ile92Met
NP_001288218.1:p.Ile56Met
NP_001317273.1:p.Ile56Met
NP_001317275.1:p.Ile56Met
NP_001317280.1:p.Ile56Met
NP_001352705.1:p.Ile92Met
NP_001352706.1:p.Ile92Met
NP_001352707.1:p.Ile134Met
NP_001352708.1:p.Ile92Met
NP_001352709.1:p.Ile56Met
NP_001352710.1:p.Ile56Met
NP_001352711.1:p.Ile56Met
LRG_387t1:c.276C>G
LRG_387:g.19382C>G
LRG_387p1:p.Ile92Met
NC_000015.9:g.63349219C>G
NM_001018005.1:c.276C>G

Protein change:

I134M

Links:

dbSNP: rs730881157

NCBI 1000 Genomes Browser:

rs730881157

Molecular consequence:

NM_000366.6:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018004.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018005.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018006.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018007.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018008.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001018020.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001301244.2:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001301289.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330344.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330346.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330351.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365776.1:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365777.1:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365778.1:c.402C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365779.1:c.276C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365780.1:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365781.2:c.168C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001365782.1:c.168C>G - 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
SCV000209354	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 1, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209354

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 1, 2012)

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, SCV000209354.10

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

Description

Ile92Met has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Although Ile92Met results in a conservative amino acid substitution of one non-polar residue for another, the substitution occurs at a position that is conserved across species. In silico analysis predicts Ile92Met is probably damaging to protein structure or function. Moreover, another mutation at the same residue (Ile92Thr) has been reported in a family with dilated cardiomyopathy, further supporting the functional importance of this residue and this region of the protein. The NHLBI ESP Exome Variant Server reports Ile92Met was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. The variant is found in DCM panel(s).

#	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: Nov 5, 2022

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