U.S. flag

An official website of the United States government

NM_000314.8(PTEN):c.70G>C (p.Asp24His) AND Cowden syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 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:
RCV001523840.1

Allele description [Variation Report for NM_000314.8(PTEN):c.70G>C (p.Asp24His)]

NM_000314.8(PTEN):c.70G>C (p.Asp24His)

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.70G>C (p.Asp24His)
HGVS:
  • NC_000010.11:g.87864539G>C
  • NG_007466.2:g.6101G>C
  • NG_033079.1:g.3899C>G
  • NM_000314.8:c.70G>CMANE SELECT
  • NM_001304717.5:c.589G>C
  • NM_001304718.2:c.-636G>C
  • NP_000305.3:p.Asp24His
  • NP_001291646.4:p.Asp197His
  • LRG_311t1:c.70G>C
  • LRG_1087:g.3899C>G
  • LRG_311:g.6101G>C
  • NC_000010.10:g.89624296G>C
  • NM_000314.4:c.70G>C
  • NM_000314.6:c.70G>C
  • p.D24H
Protein change:
D197H
Links:
dbSNP: rs786201995
NCBI 1000 Genomes Browser:
rs786201995
Molecular consequence:
  • NM_001304718.2:c.-636G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.70G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.589G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome 1 (CWS1)
Identifiers:
MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478147Department of Pediatrics, Memorial Sloan Kettering Cancer Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 15, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, et al.

JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. Erratum in: JAMA. 2018 Dec 11;320(22):2381. doi: 10.1001/jama.2018.17511.

PubMed [citation]
PMID:
28873162
PMCID:
PMC5611881

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 Department of Pediatrics, Memorial Sloan Kettering Cancer Center, SCV001478147.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024