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NM_000314.8(PTEN):c.1105G>A (p.Val369Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2013
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:
RCV000130915.2

Allele description [Variation Report for NM_000314.8(PTEN):c.1105G>A (p.Val369Ile)]

NM_000314.8(PTEN):c.1105G>A (p.Val369Ile)

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.1105G>A (p.Val369Ile)
HGVS:
  • NC_000010.11:g.87965365G>A
  • NG_007466.2:g.106927G>A
  • NM_000314.8:c.1105G>AMANE SELECT
  • NM_001304717.5:c.1624G>A
  • NM_001304718.2:c.514G>A
  • NP_000305.3:p.Val369Ile
  • NP_001291646.4:p.Val542Ile
  • NP_001291647.1:p.Val172Ile
  • LRG_311t1:c.1105G>A
  • LRG_311:g.106927G>A
  • NC_000010.10:g.89725122G>A
  • NC_000010.10:g.89725122G>A
  • NM_000314.4:c.1105G>A
  • NM_000314.7(PTEN):c.1105G>A
  • p.V369I
  • p.Val369Ile
Protein change:
V172I
Links:
dbSNP: rs587782224
NCBI 1000 Genomes Browser:
rs587782224
Molecular consequence:
  • NM_000314.8:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000185825Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Dec 2, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000185825.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Thep.V369I variant (also known as c.1105G>A) is located in coding exon 9 of the PTEN gene. This alteration results from a G to A substitution at nucleotide position 1105. The valine at codon 369 is replaced by isoleucine, an amino acid with highly similar properties.This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 14,000 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is completely conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024