NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 21, 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:: RCV002034807.2

Allele description [Variation Report for NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly)]

NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly)

HGVS:

NC_000016.10:g.2070564A>G
NG_005895.1:g.26259A>G
NM_000548.5:c.1825A>GMANE SELECT
NM_001077183.3:c.1825A>G
NM_001114382.3:c.1825A>G
NM_001318827.2:c.1714A>G
NM_001318829.2:c.1678A>G
NM_001318831.2:c.1225A>G
NM_001318832.2:c.1858A>G
NM_001363528.2:c.1825A>G
NM_001370404.1:c.1825A>G
NM_001370405.1:c.1825A>G
NM_021055.3:c.1825A>G
NP_000539.2:p.Ser609Gly
NP_001070651.1:p.Ser609Gly
NP_001107854.1:p.Ser609Gly
NP_001305756.1:p.Ser572Gly
NP_001305758.1:p.Ser560Gly
NP_001305760.1:p.Ser409Gly
NP_001305761.1:p.Ser620Gly
NP_001350457.1:p.Ser609Gly
NP_001357333.1:p.Ser609Gly
NP_001357334.1:p.Ser609Gly
NP_066399.2:p.Ser609Gly
LRG_487t1:c.1825A>G
LRG_487:g.26259A>G
NC_000016.9:g.2120565A>G
NM_000548.3:c.1825A>G

Protein change:

S409G

Links:

dbSNP: rs2151281861

NCBI 1000 Genomes Browser:

rs2151281861

Molecular consequence:

NM_000548.5:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001077183.3:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114382.3:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318827.2:c.1714A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318829.2:c.1678A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318831.2:c.1225A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318832.2:c.1858A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363528.2:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370404.1:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370405.1:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021055.3:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002107243	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002107243

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 21, 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, SCV002107243.2

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

Description

Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28087349)

#	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: Dec 24, 2023

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