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NM_000314.8(PTEN):c.128A>G (p.Glu43Gly) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 15, 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:
RCV003234747.1

Allele description [Variation Report for NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)]

NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)

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.128A>G (p.Glu43Gly)
HGVS:
  • NC_000010.11:g.87894073A>G
  • NG_007466.2:g.35635A>G
  • NM_000314.8:c.128A>GMANE SELECT
  • NM_001304717.5:c.647A>G
  • NM_001304718.2:c.-578A>G
  • NP_000305.3:p.Glu43Gly
  • NP_000305.3:p.Glu43Gly
  • NP_001291646.4:p.Glu216Gly
  • LRG_311t1:c.128A>G
  • LRG_311:g.35635A>G
  • LRG_311p1:p.Glu43Gly
  • NC_000010.10:g.89653830A>G
  • NM_000314.4:c.128A>G
  • NM_000314.6:c.128A>G
Protein change:
E216G
Molecular consequence:
  • NM_001304718.2:c.-578A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.647A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003932348KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 15, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003932348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

a variant of certain significance was detected in the PTEN gene (c.128A>G). This sequence change replaces glutamic acid with glycine at codon 43 of the PTEN protein (p.Glu43Gly). The glutamic acid residue is highly conserved (PhyloP=8.5). This variant is not present in population databases (gnomAD no frequency) nor in our local database. This variant has not been reported in the literature in individuals with PTENrelated disease. ClinVar does not contain an entry for this variant. In-silico predictions show pathogenic computational verdict based on SIFT, PolyPhen, BayesDel_addAF, DANN, EIGEN, FATHMM-MKL, LISTS2, MutationTaster and SIFT , DEOGEN2, M-CAP, MVP, MutationAssessor and PrimateAI. 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.

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

Last Updated: Jun 24, 2023