U.S. flag

An official website of the United States government

NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2023
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:
RCV003162558.2

Allele description [Variation Report for NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)]

NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
HGVS:
  • NC_000009.12:g.132907351_132907352delinsAG
  • NG_012386.1:g.42282_42283delinsCT
  • NM_000368.5:c.1282_1283delinsCTMANE SELECT
  • NM_001162426.2:c.1279_1280delinsCT
  • NM_001162427.2:c.1129_1130delinsCT
  • NM_001362177.2:c.919_920delinsCT
  • NP_000359.1:p.Ala428Leu
  • NP_000359.1:p.Ala428Leu
  • NP_001155898.1:p.Ala427Leu
  • NP_001155899.1:p.Ala377Leu
  • NP_001349106.1:p.Ala307Leu
  • LRG_486t1:c.1282_1283delinsCT
  • LRG_486:g.42282_42283delinsCT
  • LRG_486p1:p.Ala428Leu
  • NC_000009.11:g.135782738_135782739delinsAG
  • NM_000368.4:c.1282_1283delGCinsCT
  • NM_000368.4:c.1282_1283delinsCT
Protein change:
A307L
Links:
dbSNP: rs587778721
NCBI 1000 Genomes Browser:
rs587778721
Molecular consequence:
  • NM_000368.5:c.1282_1283delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162426.2:c.1279_1280delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162427.2:c.1129_1130delinsCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362177.2:c.919_920delinsCT - missense variant - [Sequence Ontology: SO:0001583]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003911762Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003911762.2

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

Description

The c.1282_1283delGCinsCT variant (also known as p.A428L), located in coding exon 11 of the TSC1 gene, results from an in-frame deletion of GC and insertion of CT at nucleotide positions 1282 to 1283. This results in the substitution of the alanine residue for a leucine residue at codon 428, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024