NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 3, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000725515.2

Allele description [Variation Report for NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)]

NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
HGVS:
  • NC_000009.12:g.132911059G>A
  • NG_012386.1:g.38575C>T
  • NM_000368.4:c.1084C>T
  • NM_000368.5:c.1084C>TMANE SELECT
  • NM_001162426.2:c.1084C>T
  • NM_001162427.2:c.931C>T
  • NM_001362177.2:c.721C>T
  • NP_000359.1:p.Pro362Ser
  • NP_000359.1:p.Pro362Ser
  • NP_001155898.1:p.Pro362Ser
  • NP_001155899.1:p.Pro311Ser
  • NP_001349106.1:p.Pro241Ser
  • LRG_486t1:c.1084C>T
  • LRG_486:g.38575C>T
  • LRG_486p1:p.Pro362Ser
  • NC_000009.11:g.135786446G>A
  • Q92574:p.Pro362Ser
  • p.(Pro362Ser)
Protein change:
P241S
Links:
Tuberous sclerosis database (TSC1): TSC1_00500; UniProtKB: Q92574#VAR_070649; dbSNP: rs397514864
NCBI 1000 Genomes Browser:
rs397514864
Molecular consequence:
  • NM_000368.4:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000368.5:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162426.2:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162427.2:c.931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362177.2:c.721C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337442EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Nov 24, 2015)
germlineclinical testing

Citation Link,

SCV000524636GeneDxcriteria provided, single submitter
Likely benign
(Feb 3, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337442.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000524636.4

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22161988)

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

Last Updated: Nov 27, 2021

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