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NM_000548.5(TSC2):c.138+16G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 9, 2018
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:
RCV000604776.1

Allele description [Variation Report for NM_000548.5(TSC2):c.138+16G>A]

NM_000548.5(TSC2):c.138+16G>A

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.138+16G>A
HGVS:
  • NC_000016.10:g.2048769G>A
  • NG_005895.1:g.4464G>A
  • NG_008412.1:g.4098C>T
  • NM_000548.5:c.138+16G>AMANE SELECT
  • NM_001077183.3:c.138+16G>A
  • NM_001114382.3:c.138+16G>A
  • NM_001318827.2:c.138+16G>A
  • NM_001318829.2:c.-10+704G>A
  • NM_001318831.2:c.-89+16G>A
  • NM_001318832.2:c.171+16G>A
  • NM_001363528.2:c.138+16G>A
  • NM_001370404.1:c.138+16G>A
  • NM_001370405.1:c.138+16G>A
  • NM_021055.3:c.138+16G>A
  • LRG_487t1:c.138+16G>A
  • LRG_1366:g.4098C>T
  • LRG_487:g.4464G>A
  • NC_000016.9:g.2098770G>A
  • NM_000548.3:c.138+16G>A
Links:
dbSNP: rs1555494744
NCBI 1000 Genomes Browser:
rs1555494744
Molecular consequence:
  • NM_000548.5:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077183.3:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114382.3:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318827.2:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318829.2:c.-10+704G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318831.2:c.-89+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318832.2:c.171+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363528.2:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370404.1:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370405.1:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021055.3:c.138+16G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000726079GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 9, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000726079.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024