NM_000548.5(TSC2):c.299C>T (p.Ala100Val) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000594514.2

Allele description [Variation Report for NM_000548.5(TSC2):c.299C>T (p.Ala100Val)]

NM_000548.5(TSC2):c.299C>T (p.Ala100Val)

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.299C>T (p.Ala100Val)
HGVS:
  • NC_000016.10:g.2053415C>T
  • NG_005895.1:g.9110C>T
  • NM_000548.5:c.299C>TMANE SELECT
  • NM_001077183.3:c.299C>T
  • NM_001114382.3:c.299C>T
  • NM_001318827.2:c.226-881C>T
  • NM_001318829.2:c.152C>T
  • NM_001318831.2:c.-1-2781C>T
  • NM_001318832.2:c.332C>T
  • NM_001363528.2:c.299C>T
  • NM_001370404.1:c.299C>T
  • NM_001370405.1:c.299C>T
  • NM_021055.3:c.299C>T
  • NP_000539.2:p.Ala100Val
  • NP_001070651.1:p.Ala100Val
  • NP_001107854.1:p.Ala100Val
  • NP_001305758.1:p.Ala51Val
  • NP_001305761.1:p.Ala111Val
  • NP_001350457.1:p.Ala100Val
  • NP_001357333.1:p.Ala100Val
  • NP_001357334.1:p.Ala100Val
  • NP_066399.2:p.Ala100Val
  • LRG_487t1:c.299C>T
  • LRG_487:g.9110C>T
  • NC_000016.9:g.2103416C>T
  • NM_000548.3:c.299C>T
Protein change:
A100V
Links:
dbSNP: rs375824753
NCBI 1000 Genomes Browser:
rs375824753
Molecular consequence:
  • NM_001318827.2:c.226-881C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318831.2:c.-1-2781C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000548.5:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709473EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jan 26, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000709473.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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