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NM_000368.5(TSC1):c.1002G>C (p.Ser334=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 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:
RCV003355482.2

Allele description [Variation Report for NM_000368.5(TSC1):c.1002G>C (p.Ser334=)]

NM_000368.5(TSC1):c.1002G>C (p.Ser334=)

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.1002G>C (p.Ser334=)
HGVS:
  • NC_000009.12:g.132911480C>G
  • NG_012386.1:g.38154G>C
  • NM_000368.4:c.1002G>C
  • NM_000368.5:c.1002G>CMANE SELECT
  • NM_001162426.2:c.1002G>C
  • NM_001162427.2:c.849G>C
  • NM_001362177.2:c.639G>C
  • NP_000359.1:p.Ser334=
  • NP_001155898.1:p.Ser334=
  • NP_001155899.1:p.Ser283=
  • NP_001349106.1:p.Ser213=
  • LRG_486t1:c.1002G>C
  • LRG_486:g.38154G>C
  • NC_000009.11:g.135786867C>G
Links:
dbSNP: rs200820603
NCBI 1000 Genomes Browser:
rs200820603
Molecular consequence:
  • NM_000368.5:c.1002G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162426.2:c.1002G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162427.2:c.849G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001362177.2:c.639G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004076917Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 28, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004076917.2

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

Description

The c.1002G>C variant (also known as p.S334S), located in coding exon 8 of the TSC1 gene, results from a G to C substitution at nucleotide position 1002. This nucleotide substitution does not change the at codon 334. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. 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