U.S. flag

An official website of the United States government

NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys) AND Tuberous sclerosis 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 2019
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:
RCV001232921.8

Allele description [Variation Report for NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys)]

NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys)

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.5189C>G (p.Ser1730Cys)
HGVS:
  • NC_000016.10:g.2088255C>G
  • NG_005895.1:g.43950C>G
  • NG_008617.1:g.54966G>C
  • NM_000548.5:c.5189C>GMANE SELECT
  • NM_001077183.3:c.4988C>G
  • NM_001114382.3:c.5120C>G
  • NM_001318827.2:c.4880C>G
  • NM_001318829.2:c.4844C>G
  • NM_001318831.2:c.4457C>G
  • NM_001318832.2:c.5021C>G
  • NM_001363528.2:c.4991C>G
  • NM_001370404.1:c.5057C>G
  • NM_001370405.1:c.5048C>G
  • NM_021055.3:c.5060C>G
  • NP_000539.2:p.Ser1730Cys
  • NP_001070651.1:p.Ser1663Cys
  • NP_001107854.1:p.Ser1707Cys
  • NP_001305756.1:p.Ser1627Cys
  • NP_001305758.1:p.Ser1615Cys
  • NP_001305760.1:p.Ser1486Cys
  • NP_001305761.1:p.Ser1674Cys
  • NP_001350457.1:p.Ser1664Cys
  • NP_001357333.1:p.Ser1686Cys
  • NP_001357334.1:p.Ser1683Cys
  • NP_066399.2:p.Ser1687Cys
  • LRG_487t1:c.5189C>G
  • LRG_487:g.43950C>G
  • NC_000016.9:g.2138256C>G
  • NM_000548.3:c.5189C>G
Protein change:
S1486C
Links:
dbSNP: rs2091134565
NCBI 1000 Genomes Browser:
rs2091134565
Molecular consequence:
  • NM_000548.5:c.5189C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.5120C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.4880C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.4844C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.4457C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.5021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.5057C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.5048C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.5060C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tuberous sclerosis 2 (TSC2)
Identifiers:
MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001405494Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jul 31, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001405494.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 1730 of the TSC2 protein (p.Ser1730Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024