NM_000535.7(PMS2):c.1144+5del AND Lynch syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 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:: RCV000233253.4

Allele description [Variation Report for NM_000535.7(PMS2):c.1144+5del]

NM_000535.7(PMS2):c.1144+5del

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.1144+5del

HGVS:

NC_000007.14:g.5989795del
NG_008466.1:g.24312del
NM_000535.7:c.1144+5delMANE SELECT
NM_001322003.2:c.739+5del
NM_001322004.2:c.739+5del
NM_001322005.2:c.739+5del
NM_001322006.2:c.989-2175del
NM_001322007.2:c.826+5del
NM_001322008.2:c.826+5del
NM_001322009.2:c.739+5del
NM_001322010.2:c.584-2175del
NM_001322011.2:c.211+5del
NM_001322012.2:c.211+5del
NM_001322013.2:c.571+5del
NM_001322014.2:c.1144+5del
NM_001322015.2:c.835+5del
LRG_161t1:c.1144+5del
LRG_161:g.24312del
NC_000007.13:g.6029426del
NC_000007.13:g.6029426delC
NM_000535.5:c.1144+5delG

Links:

dbSNP: rs878854032

NCBI 1000 Genomes Browser:

rs878854032

Molecular consequence:

NM_000535.7:c.1144+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.739+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.739+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.739+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.989-2175del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.826+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.826+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.739+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.584-2175del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.211+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.211+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.571+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.1144+5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.835+5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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
SCV000285046	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 30, 2016)	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

SCV000285046

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 30, 2016)

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000285046.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine