NM_000368.5(TSC1):c.1438+6G>A AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Dec 3, 2020
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:: RCV000227291.40

Allele description [Variation Report for NM_000368.5(TSC1):c.1438+6G>A]

NM_000368.5(TSC1):c.1438+6G>A

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.1438+6G>A

HGVS:

NC_000009.12:g.132906725C>T
NG_012386.1:g.42909G>A
NM_000368.5:c.1438+6G>AMANE SELECT
NM_001162426.2:c.1435+6G>A
NM_001162427.2:c.1285+6G>A
NM_001362177.2:c.1075+6G>A
LRG_486t1:c.1438+6G>A
LRG_486:g.42909G>A
NC_000009.11:g.135782112C>T
NM_000368.3:c.1438+6G>A
NM_000368.4:c.1438+6G>A
p.(=)

Links:

Tuberous sclerosis database (TSC1): TSC1_00090; dbSNP: rs118203530

NCBI 1000 Genomes Browser:

rs118203530

Molecular consequence:

NM_000368.5:c.1438+6G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001162426.2:c.1435+6G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001162427.2:c.1285+6G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001362177.2:c.1075+6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000514996	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 3, 2020)	germline	clinical testing	Citation Link,
SCV001155798	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Apr 1, 2019)	germline	clinical testing	Citation Link,
SCV001806865	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001917023	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000514996.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001155798.27

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001806865.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001917023.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine

NM_000368.5(TSC1):c.1438+6G>A AND not provided

Allele description [Variation Report for NM_000368.5(TSC1):c.1438+6G>A]

NM_000368.5(TSC1):c.1438+6G>A

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From GeneDx, SCV000514996.6

From CeGaT Center for Human Genetics Tuebingen, SCV001155798.27

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001806865.1

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001917023.1