NM_000535.7(PMS2):c.24-4C>G AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV003483681.1

Allele description [Variation Report for NM_000535.7(PMS2):c.24-4C>G]

NM_000535.7(PMS2):c.24-4C>G

Gene:

PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.24-4C>G

HGVS:

NC_000007.14:g.6006035G>C
NG_008466.1:g.8072C>G
NG_050738.1:g.1785G>C
NM_000535.7:c.24-4C>GMANE SELECT
NM_001322003.2:c.-377-9C>G
NM_001322004.2:c.-242-1977C>G
NM_001322005.2:c.-382-4C>G
NM_001322006.2:c.24-4C>G
NM_001322007.2:c.-192-4C>G
NM_001322008.2:c.-52-1977C>G
NM_001322009.2:c.-377-9C>G
NM_001322010.2:c.-242-1977C>G
NM_001322011.2:c.-861-4C>G
NM_001322012.2:c.-856-9C>G
NM_001322013.2:c.-377-9C>G
NM_001322014.2:c.24-4C>G
NM_001322015.2:c.-456-9C>G
LRG_161t1:c.24-4C>G
LRG_161:g.8072C>G
NC_000007.13:g.6045666G>C
NM_000535.5:c.24-4C>G
NM_000535.6:c.24-4C>G

Links:

dbSNP: rs2345056

NCBI 1000 Genomes Browser:

rs2345056

Molecular consequence:

NM_000535.7:c.24-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.-377-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.-242-1977C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.-382-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.24-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.-192-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.-52-1977C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.-377-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.-242-1977C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.-861-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.-856-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.-377-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.24-4C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.-456-9C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

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
SCV004231815	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 17, 2024)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004231815

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 17, 2024)

germline

curation

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	not provided	not provided	not provided	not provided	not provided	not provided	curation

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 German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV004231815.1

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

Description

. According to the ACMG standard criteria we chose these criteria: PM2 (supporting pathogenic): not in gnomAD, BP4 (supporting benign): spliceAI:PMS2:0.0, BS3 (strong benign): Own splicing analysis showed no effect on splicing

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine