NM_000314.8(PTEN):c.801+7A>G AND PTEN hamartoma tumor syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 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:: RCV001062523.5

Allele description

NM_000314.8(PTEN):c.801+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_000314.8(PTEN):c.801+7A>G

HGVS:

NC_000010.11:g.87958026A>G
NG_007466.2:g.99588A>G
NM_000314.8:c.801+7A>GMANE SELECT
NM_001304717.5:c.1321+7A>G
NM_001304718.2:c.210+7A>G
LRG_311t1:c.801+7A>G
LRG_311:g.99588A>G
NC_000010.10:g.89717783A>G
NM_000314.4:c.801+7A>G

Links:

dbSNP: rs1211730867

NCBI 1000 Genomes Browser:

rs1211730867

Molecular consequence:

NM_000314.8:c.801+7A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001304717.5:c.1321+7A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001304718.2:c.210+7A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: PTEN hamartoma tumor syndrome (PHTS)
Synonyms:: PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
Identifiers:: MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001227330	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 16, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10959096, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001227330

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 16, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas.

Kurose K, Zhou XP, Araki T, Eng C.

Genes Chromosomes Cancer. 2000 Oct;29(2):166-72.

PubMed [citation]

PMID:: 10959096

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001227330.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is also known as IVS7+7A>G. ClinVar contains an entry for this variant (Variation ID: 856949). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with cervical carcinoma (PMID: 10959096). This sequence change falls in intron 7 of the PTEN gene. It does not directly change the encoded amino acid sequence of the PTEN protein. This variant is not present in population databases (gnomAD no frequency).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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