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NM_000314.8(PTEN):c.-844T>C AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483475.1

Allele description [Variation Report for NM_000314.8(PTEN):c.-844T>C]

NM_000314.8(PTEN):c.-844T>C

Genes:
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [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.-844T>C
HGVS:
  • NC_000010.11:g.87863626T>C
  • NG_007466.2:g.5189T>C
  • NG_033079.1:g.4812A>G
  • NM_000314.8:c.-844T>CMANE SELECT
  • NM_001304717.5:c.-324T>C
  • NM_001304718.2:c.-1548T>C
  • LRG_311t1:c.-843T>C
  • LRG_1087:g.4812A>G
  • LRG_311:g.5189T>C
  • NC_000010.10:g.89623383T>C
  • NM_000314.4:c.-843T>C
  • c.-844T>C[hg19]
Links:
dbSNP: rs587779995
NCBI 1000 Genomes Browser:
rs587779995
Molecular consequence:
  • NM_000314.8:c.-844T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-324T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1548T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Synonyms:
Riley-Smith syndrome; Macrocephaly multiple lipomas and hemangiomata; Ruvalcaba -Myhre-Smith syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007924; MedGen: C0265326; Orphanet: 109
Name:
PTEN hamartoma tumor syndrome (PHTS)
Synonyms:
PTEN Hamartomatous Tumour Syndrome
Identifiers:
MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
Name:
Cowden syndrome (CS)
Synonyms:
Cowden's disease; Cowden's syndrome; Cowden disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016063; MedGen: C0018553; Orphanet: 201; OMIM: PS158350

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228973GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 12-14-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024