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NM_000314.6(PTEN):c.-921G>C AND not specified

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV000521985.12

Allele description [Variation Report for NM_000314.6(PTEN):c.-921G>C]

NM_000314.6(PTEN):c.-921G>C

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.-921G>C
HGVS:
  • NC_000010.11:g.87863548G>C
  • NG_007466.2:g.5111G>C
  • NG_033079.1:g.4890C>G
  • NG_183718.1:g.269G>C
  • NM_000314.4:c.-921G>C
  • NM_000314.6:c.-921G>C
  • NM_001304717.4:c.-402G>C
  • NM_001304718.1:c.-1626G>C
  • LRG_311t1:c.-921G>C
  • LRG_1087:g.4890C>G
  • LRG_311:g.5111G>C
  • NC_000010.10:g.89623305G>C
Links:
dbSNP: rs786203676
NCBI 1000 Genomes Browser:
rs786203676

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000616837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted PTEN c.-921G>C, and describes a nucleotide substitution 921 base pairsupstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the basethat is substituted in brackets, is GCCG[G/C]CGGG. This variant, also called c.-920G>C using alternate numbering,has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed inindividuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclearwhether PTEN c.-921G>C is pathogenic or benign. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000616837GeneDx
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000616837 appears to be redundant with SCV001780609.

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 24, 2017) 		germlineclinical testing

Citation Link

Last Updated: Nov 3, 2024