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NM_000368.5(TSC1):c.526dup (p.Tyr176fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 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:
RCV003375275.2

Allele description [Variation Report for NM_000368.5(TSC1):c.526dup (p.Tyr176fs)]

NM_000368.5(TSC1):c.526dup (p.Tyr176fs)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.526dup (p.Tyr176fs)
HGVS:
  • NC_000009.12:g.132921956dup
  • NG_012386.1:g.27678dup
  • NM_000368.4:c.526dupT
  • NM_000368.5:c.526dupMANE SELECT
  • NM_001162426.2:c.526dup
  • NM_001162427.2:c.373dup
  • NM_001362177.2:c.163dup
  • NP_000359.1:p.Tyr176fs
  • NP_001155898.1:p.Tyr176fs
  • NP_001155899.1:p.Tyr125fs
  • NP_001349106.1:p.Tyr55fs
  • LRG_486t1:c.526dup
  • LRG_486:g.27678dup
  • NC_000009.11:g.135797342_135797343insA
  • NC_000009.11:g.135797343dup
Protein change:
Y125fs
Links:
dbSNP: rs2132161155
NCBI 1000 Genomes Browser:
rs2132161155
Molecular consequence:
  • NM_000368.5:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162426.2:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001162427.2:c.373dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362177.2:c.163dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004097342Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 29, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome.

Miyata H, Fushimi S, Ota Y, Vinters HV, Adachi K, Nanba E, Akiyama T.

Neuropathology. 2021 Feb;41(1):58-64. doi: 10.1111/neup.12700. Epub 2020 Nov 12.

PubMed [citation]
PMID:
33181865

Details of each submission

From Ambry Genetics, SCV004097342.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.526dupT pathogenic mutation, located in coding exon 5 of the TSC1 gene, results from a duplication of T at nucleotide position 526, causing a translational frameshift with a predicted alternate stop codon (p.Y176Lfs*42). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024