NM_000535.7(PMS2):c.2007-6C>G AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 30, 2023
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:: RCV003477659.1

Allele description [Variation Report for NM_000535.7(PMS2):c.2007-6C>G]

NM_000535.7(PMS2):c.2007-6C>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.2007-6C>G

HGVS:

NC_000007.14:g.5982997G>C
NG_008466.1:g.31110C>G
NM_000535.7:c.2007-6C>GMANE SELECT
NM_001322003.2:c.1602-6C>G
NM_001322004.2:c.1602-6C>G
NM_001322005.2:c.1602-6C>G
NM_001322006.2:c.1851-6C>G
NM_001322007.2:c.1689-6C>G
NM_001322008.2:c.1689-6C>G
NM_001322009.2:c.1602-6C>G
NM_001322010.2:c.1446-6C>G
NM_001322011.2:c.1074-6C>G
NM_001322012.2:c.1074-6C>G
NM_001322013.2:c.1434-6C>G
NM_001322014.2:c.2007-6C>G
NM_001322015.2:c.1698-6C>G
LRG_161t1:c.2007-6C>G
LRG_161:g.31110C>G
NC_000007.13:g.6022628G>C
NM_000535.5:c.2007-6C>G
NM_000535.6:c.2007-6C>G

Links:

dbSNP: rs376018314

NCBI 1000 Genomes Browser:

rs376018314

Molecular consequence:

NM_000535.7:c.2007-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.1602-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.1602-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.1602-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.1851-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.1689-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.1689-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.1602-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.1446-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.1074-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.1074-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.1434-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.2007-6C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.1698-6C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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carboxy terminal-processing peptidase [Moellerella wisconsensis]
carboxy terminal-processing peptidase [Moellerella wisconsensis]
gi|2208586156|gnl|PRJNA814053|MNY66 5|gb|UNH41163.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004218973	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (May 30, 2023)	unknown	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

SCV004218973

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(May 30, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004218973.1

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

Description

To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000095 (2/21112 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on PMS2 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 29, 2024

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