NM_000314.8(PTEN):c.79+35C>T AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Sep 18, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000209533.8

Allele description [Variation Report for NM_000314.8(PTEN):c.79+35C>T]

NM_000314.8(PTEN):c.79+35C>T

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.79+35C>T

HGVS:

NC_000010.11:g.87864583C>T
NG_007466.2:g.6145C>T
NG_033079.1:g.3855G>A
NM_000314.8:c.79+35C>TMANE SELECT
NM_001304717.5:c.599+35C>T
NM_001304718.2:c.-627+35C>T
LRG_311t1:c.79+35C>T
LRG_1087:g.3855G>A
LRG_311:g.6145C>T
NC_000010.10:g.89624340C>T
NM_000314.4:c.79+35C>T
NM_000314.6:c.79+35C>T

Links:

dbSNP: rs190707033

NCBI 1000 Genomes Browser:

rs190707033

Molecular consequence:

NM_000314.8:c.79+35C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001304717.5:c.599+35C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001304718.2:c.-627+35C>T - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

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PREDICTED: Nomascus leucogenys kinesin-like protein KIF1C (LOC105738625), mRNA
PREDICTED: Nomascus leucogenys kinesin-like protein KIF1C (LOC105738625), mRNA
gi|1743136004|ref|XM_030807958.1|

Nucleotide
MHC class I antigen [Homo sapiens]
MHC class I antigen [Homo sapiens]
gi|543905924|gb|AGV77008.1|

Protein
RecName: Full=Acetophenone carboxylase beta subunit; AltName: Full=Acetophenone ...
RecName: Full=Acetophenone carboxylase beta subunit; AltName: Full=Acetophenone carboxylase 15 kDa subunit
gi|81357897|sp|Q5P5G3.1|APCB_AROAE

Protein
LOC127270332 [Homo sapiens]
LOC127270332 [Homo sapiens]
Gene ID:127270332

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000265405	University of Washington Department of Laboratory Medicine, University of Washington	no assertion criteria provided	Likely benign (Dec 1, 2015)	germline	clinical testing
SCV000691188	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 22, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002528257	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Sep 18, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265405

University of Washington Department of Laboratory Medicine, University of Washington

no assertion criteria provided

Likely benign
(Dec 1, 2015)

germline

clinical testing

SCV000691188

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 22, 2015)

germline

clinical testing

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

SCV002528257

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Sep 18, 2020)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 University of Washington Department of Laboratory Medicine, University of Washington, SCV000265405.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV000691188.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sema4, Sema4, SCV002528257.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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