NM_000548.5(TSC2):c.1417C>G (p.Leu473Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 16, 2024
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:: RCV004678745.1

Allele description [Variation Report for NM_000548.5(TSC2):c.1417C>G (p.Leu473Val)]

NM_000548.5(TSC2):c.1417C>G (p.Leu473Val)

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.1417C>G (p.Leu473Val)

HGVS:

NC_000016.10:g.2063027C>G
NG_005895.1:g.18722C>G
NM_000548.5:c.1417C>GMANE SELECT
NM_001077183.3:c.1417C>G
NM_001114382.3:c.1417C>G
NM_001318827.2:c.1306C>G
NM_001318829.2:c.1270C>G
NM_001318831.2:c.817C>G
NM_001318832.2:c.1450C>G
NM_001363528.2:c.1417C>G
NM_001370404.1:c.1417C>G
NM_001370405.1:c.1417C>G
NM_021055.3:c.1417C>G
NP_000539.2:p.Leu473Val
NP_001070651.1:p.Leu473Val
NP_001107854.1:p.Leu473Val
NP_001305756.1:p.Leu436Val
NP_001305758.1:p.Leu424Val
NP_001305760.1:p.Leu273Val
NP_001305761.1:p.Leu484Val
NP_001350457.1:p.Leu473Val
NP_001357333.1:p.Leu473Val
NP_001357334.1:p.Leu473Val
NP_066399.2:p.Leu473Val
LRG_487t1:c.1417C>G
LRG_487:g.18722C>G
NC_000016.9:g.2113028C>G
NM_000548.3:c.1417C>G

Protein change:

L273V

Links:

dbSNP: rs1321215329

NCBI 1000 Genomes Browser:

rs1321215329

Molecular consequence:

NM_000548.5:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001077183.3:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114382.3:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318827.2:c.1306C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318829.2:c.1270C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318831.2:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318832.2:c.1450C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363528.2:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370404.1:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370405.1:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021055.3:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005174567	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 16, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005174567

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 16, 2024)

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

Details of each submission

From Ambry Genetics, SCV005174567.1

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

Description

The p.L473V variant (also known as c.1417C>G), located in coding exon 13 of the TSC2 gene, results from a C to G substitution at nucleotide position 1417. The leucine at codon 473 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#	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: Sep 29, 2024

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