NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) AND Ovarian cancer

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2022
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:: RCV003153466.2

Allele description [Variation Report for NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)]

NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)

Other names:

p.R1751H:CGC>CAC

HGVS:

NC_000016.10:g.2088318G>A
NG_005895.1:g.44013G>A
NG_008617.1:g.54903C>T
NM_000548.5:c.5252G>AMANE SELECT
NM_001077183.3:c.5051G>A
NM_001114382.3:c.5183G>A
NM_001318827.2:c.4943G>A
NM_001318829.2:c.4907G>A
NM_001318831.2:c.4520G>A
NM_001318832.2:c.5084G>A
NM_001363528.2:c.5054G>A
NM_001370404.1:c.5120G>A
NM_001370405.1:c.5111G>A
NM_021055.3:c.5123G>A
NP_000539.2:p.Arg1751His
NP_001070651.1:p.Arg1684His
NP_001107854.1:p.Arg1728His
NP_001305756.1:p.Arg1648His
NP_001305758.1:p.Arg1636His
NP_001305760.1:p.Arg1507His
NP_001305761.1:p.Arg1695His
NP_001350457.1:p.Arg1685His
NP_001357333.1:p.Arg1707His
NP_001357334.1:p.Arg1704His
NP_066399.2:p.Arg1708His
LRG_487t1:c.5252G>A
LRG_487:g.44013G>A
NC_000016.9:g.2138319G>A
NM_000548.3:c.5252G>A
NM_000548.4:c.5252G>A

Protein change:

R1507H

Links:

dbSNP: rs373365980

NCBI 1000 Genomes Browser:

rs373365980

Molecular consequence:

NM_000548.5:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077183.3:c.5051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114382.3:c.5183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318827.2:c.4943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318829.2:c.4907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318831.2:c.4520G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318832.2:c.5084G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363528.2:c.5054G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370404.1:c.5120G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370405.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021055.3:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ovarian cancer
Synonyms:: OVARIAN CANCER, SOMATIC
Identifiers:: MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000

Recent activity

Clear Turn Off Turn On

LOC106110141 [Papilio polytes]
LOC106110141 [Papilio polytes]
Gene ID:106110141

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003843663	Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003843663

Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University, SCV003843663.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine