U.S. flag

An official website of the United States government

NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) AND not provided

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Jul 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001171694.28

Allele description [Variation Report for NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)]

NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)

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.3429C>T (p.Asp1143=)
HGVS:
  • NC_000016.10:g.2080196C>T
  • NG_005895.1:g.35891C>T
  • NM_000548.5:c.3429C>TMANE SELECT
  • NM_001077183.3:c.3297C>T
  • NM_001114382.3:c.3429C>T
  • NM_001318827.2:c.3189C>T
  • NM_001318829.2:c.3153C>T
  • NM_001318831.2:c.2697C>T
  • NM_001318832.2:c.3330C>T
  • NM_001363528.2:c.3300C>T
  • NM_001370404.1:c.3297C>T
  • NM_001370405.1:c.3300C>T
  • NM_021055.3:c.3300C>T
  • NP_000539.2:p.Asp1143=
  • NP_001070651.1:p.Asp1099=
  • NP_001107854.1:p.Asp1143=
  • NP_001305756.1:p.Asp1063=
  • NP_001305758.1:p.Asp1051=
  • NP_001305760.1:p.Asp899=
  • NP_001305761.1:p.Asp1110=
  • NP_001350457.1:p.Asp1100=
  • NP_001357333.1:p.Asp1099=
  • NP_001357334.1:p.Asp1100=
  • NP_066399.2:p.Asp1100=
  • LRG_487t1:c.3429C>T
  • LRG_487:g.35891C>T
  • NC_000016.9:g.2130197C>T
  • NM_000548.3:c.3429C>T
  • p.D1143D
  • p.?
Links:
Tuberous sclerosis database (TSC2): TSC2_00941; dbSNP: rs45487691
NCBI 1000 Genomes Browser:
rs45487691
Molecular consequence:
  • NM_000548.5:c.3429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077183.3:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114382.3:c.3429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318827.2:c.3189C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318829.2:c.3153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318831.2:c.2697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318832.2:c.3330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363528.2:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370404.1:c.3297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370405.1:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021055.3:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000518471GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(May 22, 2021)
germlineclinical testing

Citation Link,

SCV001334513CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Jul 1, 2023)
germlineclinical testing

Citation Link,

SCV004221433Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Benign
(Dec 9, 2022)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000518471.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 25186949, 22558107)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001334513.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

TSC2: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221433.1

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

Last Updated: Sep 29, 2024