NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 2023
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:: RCV001731405.11

Allele description [Variation Report for NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)]

NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)

Gene:

TPM1:tropomyosin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)

HGVS:

NC_000015.10:g.63042843AGA[2]
NG_007557.1:g.5205AGA[2]
NM_000366.6:c.14AGA[2]
NM_001018004.2:c.14AGA[2]
NM_001018005.2:c.14AGA[2]MANE SELECT
NM_001018006.2:c.14AGA[2]
NM_001018007.2:c.14AGA[2]
NM_001018020.2:c.14AGA[2]
NM_001301244.2:c.14AGA[2]
NM_001365776.1:c.14AGA[2]
NM_001365777.1:c.14AGA[2]
NM_001365778.1:c.14AGA[2]
NM_001365779.1:c.14AGA[2]
NP_000357.3:p.Lys7del
NP_001018004.1:p.Lys7del
NP_001018005.1:p.Lys7del
NP_001018006.1:p.Lys7del
NP_001018007.1:p.Lys7del
NP_001018020.1:p.Lys7del
NP_001288173.1:p.Lys7del
NP_001352705.1:p.Lys7del
NP_001352706.1:p.Lys7del
NP_001352707.1:p.Lys7del
NP_001352708.1:p.Lys7del
LRG_387t1:c.14AGA[2]
LRG_387:g.5205AGA[2]
LRG_387p1:p.Lys7del
NC_000015.9:g.63335041_63335043del
NC_000015.9:g.63335042AGA[2]
NM_001018005.1:c.20_22del
NM_001018005.1:c.20_22delAGA
p.K7del

Protein change:

K7del

Links:

dbSNP: rs730881155

NCBI 1000 Genomes Browser:

rs730881155

Molecular consequence:

NM_000366.6:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018004.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018005.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018006.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018007.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001018020.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001301244.2:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001365776.1:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001365777.1:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001365778.1:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001365779.1:c.14AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209351	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209351

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 7, 2023)

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, SCV000209351.11

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 181682; ClinVar)

#	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 10, 2024

ClinVar

Relating variation to medicine