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NM_000314.8(PTEN):c.741A>G (p.Leu247=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 10, 2020
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:
RCV002386077.9

Allele description [Variation Report for NM_000314.8(PTEN):c.741A>G (p.Leu247=)]

NM_000314.8(PTEN):c.741A>G (p.Leu247=)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.741A>G (p.Leu247=)
HGVS:
  • NC_000010.11:g.87957959A>G
  • NG_007466.2:g.99521A>G
  • NM_000314.8:c.741A>GMANE SELECT
  • NM_001304717.5:c.1260A>G
  • NM_001304718.2:c.150A>G
  • NP_000305.3:p.Leu247=
  • NP_001291646.4:p.Leu420=
  • NP_001291647.1:p.Leu50=
  • LRG_311t1:c.741A>G
  • LRG_311:g.99521A>G
  • NC_000010.10:g.89717716A>G
  • NM_000314.4:c.741A>G
Links:
dbSNP: rs1554825217
NCBI 1000 Genomes Browser:
rs1554825217
Molecular consequence:
  • NM_000314.8:c.741A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001304717.5:c.1260A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001304718.2:c.150A>G - 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
SCV002668378Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 10, 2020) 		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, SCV002668378.2

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

Description

This alteration is classified as likely 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: Nov 3, 2024