NM_000535.7(PMS2):c.2006+18dup AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 3, 2022
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:: RCV002622799.3

Allele description [Variation Report for NM_000535.7(PMS2):c.2006+18dup]

NM_000535.7(PMS2):c.2006+18dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_000535.7(PMS2):c.2006+18dup

HGVS:

NC_000007.14:g.5986746dup
NG_008466.1:g.27366dup
NM_000535.7:c.2006+18dupMANE SELECT
NM_001322003.2:c.1601+18dup
NM_001322004.2:c.1601+18dup
NM_001322005.2:c.1601+18dup
NM_001322006.2:c.1850+18dup
NM_001322007.2:c.1688+18dup
NM_001322008.2:c.1688+18dup
NM_001322009.2:c.1601+18dup
NM_001322010.2:c.1445+18dup
NM_001322011.2:c.1073+18dup
NM_001322012.2:c.1073+18dup
NM_001322013.2:c.1433+18dup
NM_001322014.2:c.2006+18dup
NM_001322015.2:c.1697+18dup
LRG_161:g.27366dup
NC_000007.13:g.6026371_6026372insA
NC_000007.13:g.6026377dup

Molecular consequence:

NM_000535.7:c.2006+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.1601+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.1601+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.1601+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.1850+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.1688+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.1688+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.1601+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.1445+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.1073+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.1073+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.1433+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.2006+18dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.1697+18dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary nonpolyposis colorectal neoplasms
Identifiers:: MeSH: D003123; MedGen: C0009405

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002969890	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Sep 3, 2022)	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

SCV002969890

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Sep 3, 2022)

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, SCV002969890.2

#	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

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