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NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) AND Tuberous sclerosis syndrome

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 8, 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:
RCV000042541.5

Allele description [Variation Report for NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)]

NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)

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.4023C>A (p.Ser1341Arg)
HGVS:
  • NC_000016.10:g.2084245C>A
  • NG_005895.1:g.39940C>A
  • NM_000548.5:c.4023C>AMANE SELECT
  • NM_001077183.3:c.3822C>A
  • NM_001114382.3:c.3954C>A
  • NM_001318827.2:c.3714C>A
  • NM_001318829.2:c.3678C>A
  • NM_001318831.2:c.3291C>A
  • NM_001318832.2:c.3855C>A
  • NM_001363528.2:c.3825C>A
  • NM_001370404.1:c.3891C>A
  • NM_001370405.1:c.3894C>A
  • NM_021055.3:c.3894C>A
  • NP_000539.2:p.Ser1341Arg
  • NP_001070651.1:p.Ser1274Arg
  • NP_001107854.1:p.Ser1318Arg
  • NP_001305756.1:p.Ser1238Arg
  • NP_001305758.1:p.Ser1226Arg
  • NP_001305760.1:p.Ser1097Arg
  • NP_001305761.1:p.Ser1285Arg
  • NP_001350457.1:p.Ser1275Arg
  • NP_001357333.1:p.Ser1297Arg
  • NP_001357334.1:p.Ser1298Arg
  • NP_066399.2:p.Ser1298Arg
  • LRG_487t1:c.4023C>A
  • LRG_487:g.39940C>A
  • NC_000016.9:g.2134246C>A
  • NM_000548.3:c.4023C>A
  • NM_000548.4:c.4023C>A
  • P49815:p.Ser1341Arg
  • p.(Ser1341Arg)
Protein change:
S1097R
Links:
Tuberous sclerosis database (TSC2): TSC2_00725; UniProtKB: P49815#VAR_022920; dbSNP: rs45462593
NCBI 1000 Genomes Browser:
rs45462593
Molecular consequence:
  • NM_000548.5:c.4023C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.3822C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.3954C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.3714C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.3678C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.3291C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.3855C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.3825C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.3891C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.3894C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.3894C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Synonyms:
Tuberous sclerosis
Identifiers:
MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000066334Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

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

Citation Link,

SCV004829689All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Aug 8, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S, Kumar A.

Acta Neurol Scand. 2005 Jan;111(1):54-63.

PubMed [citation]
PMID:
15595939

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066334.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004829689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024