U.S. flag

An official website of the United States government

NM_000368.5(TSC1):c.2626-4del AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 6, 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:
RCV002256019.10

Allele description [Variation Report for NM_000368.5(TSC1):c.2626-4del]

NM_000368.5(TSC1):c.2626-4del

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.2626-4del
HGVS:
  • NC_000009.11:g.135773001del
  • NC_000009.12:g.132897631del
  • NG_012386.1:g.52020del
  • NM_000368.5:c.2626-4delMANE SELECT
  • NM_001162426.2:c.2623-4del
  • NM_001162427.2:c.2473-4del
  • NM_001362177.2:c.2263-4del
  • LRG_486:g.52020del
  • NC_000009.11:g.135773001del
  • NC_000009.11:g.135773001delA
  • NC_000009.11:g.135773002del
  • NC_000009.11:g.135773018del
  • NM_000368.3:c.2626-4delT
  • NM_000368.4:c.2626-4delT
  • NM_000368.5:c.2626-4delTMANE SELECT
  • p.(=)
Links:
Tuberous sclerosis database (TSC1): TSC1_00277; dbSNP: rs5901000
NCBI 1000 Genomes Browser:
rs5901000
Molecular consequence:
  • NM_000368.5:c.2626-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001162426.2:c.2623-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001162427.2:c.2473-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362177.2:c.2263-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV002528884Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Benign
(Dec 9, 2019)
germlinecuration

Citation Link,

SCV002744645Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Benign
(Jul 6, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Details of each submission

From Sema4, Sema4, SCV002528884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002744645.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024