NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 29, 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:: RCV000601316.4

Allele description [Variation Report for NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup)]

NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup)

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup)

Other names:

p.Lys7_Met8insLys

HGVS:

NC_000015.10:g.63042843AGA[4]
NG_007557.1:g.5205AGA[4]
NM_000366.6:c.14AGA[4]
NM_001018004.2:c.14AGA[4]
NM_001018005.2:c.14AGA[4]MANE SELECT
NM_001018006.2:c.14AGA[4]
NM_001018007.2:c.14AGA[4]
NM_001018020.2:c.14AGA[4]
NM_001301244.2:c.14AGA[4]
NM_001365776.1:c.14AGA[4]
NM_001365777.1:c.14AGA[4]
NM_001365778.1:c.14AGA[4]
NM_001365779.1:c.14AGA[4]
NP_000357.3:p.Lys7dup
NP_001018004.1:p.Lys7dup
NP_001018005.1:p.Lys7dup
NP_001018006.1:p.Lys7dup
NP_001018007.1:p.Lys7dup
NP_001018020.1:p.Lys7dup
NP_001288173.1:p.Lys7dup
NP_001352705.1:p.Lys7dup
NP_001352706.1:p.Lys7dup
NP_001352707.1:p.Lys7dup
NP_001352708.1:p.Lys7dup
LRG_387t1:c.14AGA[4]
LRG_387:g.5205AGA[4]
LRG_387p1:p.Lys7dup
NC_000015.9:g.63335042AGA[4]
NC_000015.9:g.63335050_63335051insAGA

Links:

dbSNP: rs730881155

NCBI 1000 Genomes Browser:

rs730881155

Molecular consequence:

NM_000366.6:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001018004.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001018005.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001018006.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001018007.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001018020.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001301244.2:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001365776.1:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001365777.1:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001365778.1:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001365779.1:c.14AGA[4] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000712021	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Apr 29, 2016)	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

SCV000712021

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Apr 29, 2016)

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, SCV000712021.2

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

Description

The p.Lys5[4] variant in TPM1 has not been previously reported in individuals wi th cardiomyopathy or in large population studies, though the ability of these st udies to accurately detect indels may be limited. This variant is a duplication of a lysine (Lys) in a repeat region and is not predicted to alter the protein r eading frame. It is unclear if this duplication will impact the protein. In summ ary, the clinical significance of the p.Lys5[4] variant is uncertain.

#	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: Dec 24, 2022

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