NM_001018005.2(TPM1):c.115-214_115-211delinsT AND Cardiomyopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 16, 2018
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:: RCV001181394.2

Allele description [Variation Report for NM_001018005.2(TPM1):c.115-214_115-211delinsT]

NM_001018005.2(TPM1):c.115-214_115-211delinsT

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_001018005.2(TPM1):c.115-214_115-211delinsT

HGVS:

NC_000015.10:g.63043813_63043816delCGAAinsT
NC_000015.10:g.63043813_63043816delinsT
NG_007557.1:g.6175_6178delinsT
NM_000366.6:c.115-214_115-211delinsT
NM_001018004.2:c.115-214_115-211delinsT
NM_001018005.2:c.115-214_115-211delinsTMANE SELECT
NM_001018006.2:c.115-214_115-211delinsT
NM_001018007.2:c.222_225delinsT
NM_001018020.2:c.222_225delinsT
NM_001301244.2:c.222_225delinsT
NM_001365776.1:c.115-214_115-211delinsT
NM_001365777.1:c.115-214_115-211delinsT
NM_001365778.1:c.222_225delinsT
NM_001365779.1:c.115-214_115-211delinsT
NP_001018007.1:p.Glu76del
NP_001018020.1:p.Glu76del
NP_001288173.1:p.Glu76del
NP_001352707.1:p.Glu76del
LRG_387t1:c.115-214_115-211delinsT
LRG_387:g.6175_6178delinsT
NC_000015.9:g.63336012_63336015delinsT
NM_001018005.1:c.115-214_115-211delinsT

Protein change:

E76del

Links:

dbSNP: rs2031763851

NCBI 1000 Genomes Browser:

rs2031763851

Molecular consequence:

NM_001018007.2:c.222_225delinsT - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018020.2:c.222_225delinsT - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001301244.2:c.222_225delinsT - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001365778.1:c.222_225delinsT - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_000366.6:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001018004.2:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001018005.2:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001018006.2:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001365776.1:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001365777.1:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]
NM_001365779.1:c.115-214_115-211delinsT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

Recent activity

Clear Turn Off Turn On

Sarotherodon mvogoi isolate ZSM_PAA_600 ribosomal protein S7 (S7) gene, partial ...
Sarotherodon mvogoi isolate ZSM_PAA_600 ribosomal protein S7 (S7) gene, partial cds
gi|1621569819|gb|MK788456.1|

Nucleotide
Oreochromis tanganicae isolate MG42 ribosomal protein S7 (S7) gene, partial cds
Oreochromis tanganicae isolate MG42 ribosomal protein S7 (S7) gene, partial cds
gi|1621569805|gb|MK788449.1|

Nucleotide
CBSW6704.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8908869 5',...
CBSW6704.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8908869 5', mRNA sequence
gi|133764792|gnl|dbEST|45197982|gb| 042.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001346534	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 16, 2018)	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

SCV001346534

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 16, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001346534.1

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

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine