NM_000535.7(PMS2):c.24-18_24-16del AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 29, 2016
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:: RCV000483912.1

Allele description [Variation Report for NM_000535.7(PMS2):c.24-18_24-16del]

NM_000535.7(PMS2):c.24-18_24-16del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.24-18_24-16del

HGVS:

NC_000007.14:g.6006048_6006050del
NG_008466.1:g.8058_8060del
NG_050738.1:g.1798_1800del
NM_000535.7:c.24-18_24-16delMANE SELECT
NM_001322003.2:c.-377-23_-377-21del
NM_001322004.2:c.-242-1991_-242-1989del
NM_001322005.2:c.-382-18_-382-16del
NM_001322006.2:c.24-18_24-16del
NM_001322007.2:c.-192-18_-192-16del
NM_001322008.2:c.-52-1991_-52-1989del
NM_001322009.2:c.-377-23_-377-21del
NM_001322010.2:c.-242-1991_-242-1989del
NM_001322011.2:c.-861-18_-861-16del
NM_001322012.2:c.-856-23_-856-21del
NM_001322013.2:c.-377-23_-377-21del
NM_001322014.2:c.24-18_24-16del
NM_001322015.2:c.-456-23_-456-21del
LRG_161t1:c.24-18_24-16del
LRG_161:g.8058_8060del
NC_000007.13:g.6045679_6045681del
NM_000535.5:c.24-18_24-16delTGT

Links:

dbSNP: rs1064795573

NCBI 1000 Genomes Browser:

rs1064795573

Molecular consequence:

NM_000535.7:c.24-18_24-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.-377-23_-377-21del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.-242-1991_-242-1989del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.-382-18_-382-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.24-18_24-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.-192-18_-192-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.-52-1991_-52-1989del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.-377-23_-377-21del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.-242-1991_-242-1989del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.-861-18_-861-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.-856-23_-856-21del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.-377-23_-377-21del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.24-18_24-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.-456-23_-456-21del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571511	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Aug 29, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571511

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Aug 29, 2016)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000571511.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 5, 2022

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