NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 11, 2022
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:: RCV002249410.3

Allele description [Variation Report for NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)]

NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)

HGVS:

NC_000009.12:g.35685463C>T
NG_011620.1:g.9595G>A
NM_001301226.2:c.463G>A
NM_001301227.2:c.463G>A
NM_003289.4:c.463G>AMANE SELECT
NM_213674.1:c.463G>A
NP_001288155.1:p.Ala155Thr
NP_001288156.1:p.Ala155Thr
NP_003280.2:p.Ala155Thr
NP_003280.2:p.Ala155Thr
NP_998839.1:p.Ala155Thr
LRG_680t1:c.463G>A
LRG_680t2:c.463G>A
LRG_680:g.9595G>A
LRG_680p1:p.Ala155Thr
LRG_680p2:p.Ala155Thr
NC_000009.11:g.35685460C>T
NM_003289.3:c.463G>A

Protein change:

A155T

Links:

dbSNP: rs1563929039

NCBI 1000 Genomes Browser:

rs1563929039

Molecular consequence:

NM_001301226.2:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301227.2:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003289.4:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_213674.1:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Xerocomus sp. G3268 18S ribosomal RNA gene, partial sequence; internal transcrib...
Xerocomus sp. G3268 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|794879083|gb|KJ786708.1|

Nucleotide
Russula puiggarii voucher G4259 18S ribosomal RNA gene, partial sequence; intern...
Russula puiggarii voucher G4259 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|794879091|gb|KJ786716.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002520180	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Apr 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002520180

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Apr 11, 2022)

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, SCV002520180.2

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 30544720, 29792862, 28939420, 31155291, 32087052, 22832343, McAdow2021[article-not certified by peer review], 33060286, 23413262, Neissi2022[CaseReport], 31966463, 35052370)

#	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: Sep 29, 2024

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