NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) AND Breast and/or ovarian cancer

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 11, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001270946.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)]

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

HGVS:

NC_000002.12:g.47476451G>A
NG_007110.2:g.78328G>A
NM_000251.3:c.2090G>AMANE SELECT
NM_001258281.1:c.1892G>A
NP_000242.1:p.Cys697Tyr
NP_000242.1:p.Cys697Tyr
NP_001245210.1:p.Cys631Tyr
LRG_218t1:c.2090G>A
LRG_218:g.78328G>A
LRG_218p1:p.Cys697Tyr
NC_000002.11:g.47703590G>A
NM_000251.1:c.2090G>A
NM_000251.2:c.2090G>A
c.2090G>A
p.C697Y

Protein change:

C631Y

Links:

dbSNP: rs63750398

NCBI 1000 Genomes Browser:

rs63750398

Molecular consequence:

NM_000251.3:c.2090G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451750	CZECANCA consortium	no assertion criteria provided	Likely pathogenic (Jun 11, 2019)	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

SCV001451750

CZECANCA consortium

no assertion criteria provided

Likely pathogenic
(Jun 11, 2019)

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
Slavic	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]

PMID:: 32295079
PMCID:: PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451750.1

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

Last Updated: Sep 29, 2024

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