NM_000314.7(PTEN):c.79+7A>G AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000579577.4

Allele description [Variation Report for NM_000314.7(PTEN):c.79+7A>G]

NM_000314.7(PTEN):c.79+7A>G

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.7(PTEN):c.79+7A>G
Other names:
IVS1+7A>G; NM_000314.6(PTEN):c.79+7A>G
HGVS:
  • NC_000010.11:g.87864555A>G
  • NG_007466.2:g.6117A>G
  • NG_033079.1:g.3883T>C
  • NM_000314.7:c.79+7A>G
  • NM_001304717.5:c.599+7A>G
  • NM_001304718.2:c.-627+7A>G
  • LRG_311t1:c.79+7A>G
  • LRG_1087:g.3883T>C
  • LRG_311:g.6117A>G
  • NC_000010.10:g.89624312A>G
  • NM_000314.4:c.79+7A>G
  • NM_000314.6:c.79+7A>G
Links:
dbSNP: rs374331677
NCBI 1000 Genomes Browser:
rs374331677
Molecular consequence:
  • NM_000314.7:c.79+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.599+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.-627+7A>G - 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; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000686306Color Health, Inccriteria provided, single submitter
Uncertain significance
(Sep 8, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000686306.4

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

Description

This variant causes an A to G nucleotide substitution at the +7 position of intron 1 of the PTEN gene. A functional study reports no RNA defect using patient-derived cells although no data was shown (PMID: 28677221). This variant has been reported in individuals affected with Cowden or Cowden-like syndrome (PMID: 28677221). This variant has been identified in 3/251482 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Aug 27, 2021

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