NM_000535.7(PMS2):c.353+8A>C AND Hereditary nonpolyposis colorectal neoplasms

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 10, 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:: RCV003760981.1

Allele description

NM_000535.7(PMS2):c.353+8A>C

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.353+8A>C

HGVS:

NC_000007.14:g.6003682T>G
NG_008466.1:g.10425A>C
NM_000535.7:c.353+8A>CMANE SELECT
NM_001322003.2:c.-53+8A>C
NM_001322004.2:c.-53+8A>C
NM_001322005.2:c.-53+8A>C
NM_001322006.2:c.353+8A>C
NM_001322007.2:c.35+290A>C
NM_001322008.2:c.35+290A>C
NM_001322009.2:c.-53+8A>C
NM_001322010.2:c.-53+8A>C
NM_001322011.2:c.-532+8A>C
NM_001322012.2:c.-532+8A>C
NM_001322013.2:c.-53+8A>C
NM_001322014.2:c.353+8A>C
NM_001322015.2:c.-132+8A>C
NM_001406866.1:c.539+8A>C
NM_001406868.1:c.377+8A>C
NM_001406869.1:c.353+8A>C
NM_001406870.1:c.353+8A>C
NM_001406871.1:c.353+8A>C
NM_001406872.1:c.353+8A>C
NM_001406873.1:c.353+8A>C
NM_001406874.1:c.353+8A>C
NM_001406875.1:c.-132+8A>C
NM_001406876.1:c.35+290A>C
NM_001406877.1:c.-132+8A>C
NM_001406878.1:c.-132+8A>C
NM_001406879.1:c.-132+8A>C
NM_001406880.1:c.-132+61A>C
NM_001406881.1:c.-132+290A>C
NM_001406882.1:c.-132+8A>C
NM_001406883.1:c.35+290A>C
NM_001406884.1:c.353+8A>C
NM_001406885.1:c.250+290A>C
NM_001406886.1:c.353+8A>C
NM_001406887.1:c.-53+8A>C
NM_001406888.1:c.-53+61A>C
NM_001406889.1:c.-53+61A>C
NM_001406890.1:c.-53+18A>C
NM_001406891.1:c.-53+8A>C
NM_001406892.1:c.-53+61A>C
NM_001406893.1:c.-53+8A>C
NM_001406894.1:c.-53+61A>C
NM_001406895.1:c.-53+61A>C
NM_001406896.1:c.-52-1046A>C
NM_001406897.1:c.-53+8A>C
NM_001406898.1:c.-53+8A>C
NM_001406899.1:c.-53+61A>C
NM_001406900.1:c.-132+290A>C
NM_001406901.1:c.35+290A>C
NM_001406902.1:c.35+290A>C
NM_001406903.1:c.35+290A>C
NM_001406904.1:c.-53+61A>C
NM_001406905.1:c.-53+8A>C
NM_001406906.1:c.-53+8A>C
NM_001406907.1:c.-53+61A>C
NM_001406908.1:c.-53+8A>C
NM_001406909.1:c.-53+61A>C
NM_001406910.1:c.-53+8A>C
NM_001406911.1:c.-53+8A>C
NM_001406912.1:c.353+8A>C
LRG_161:g.10425A>C
NC_000007.13:g.6043313T>G

Molecular consequence:

NM_000535.7:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322003.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322004.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322005.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322006.2:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322007.2:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322008.2:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322009.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322010.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322011.2:c.-532+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322012.2:c.-532+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322013.2:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322014.2:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001322015.2:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406866.1:c.539+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406868.1:c.377+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406869.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406870.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406871.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406872.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406873.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406874.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406875.1:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406876.1:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406877.1:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406878.1:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406879.1:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406880.1:c.-132+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406881.1:c.-132+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406882.1:c.-132+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406883.1:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406884.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406885.1:c.250+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406886.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406887.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406888.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406889.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406890.1:c.-53+18A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406891.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406892.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406893.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406894.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406895.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406896.1:c.-52-1046A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406897.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406898.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406899.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406900.1:c.-132+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406901.1:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406902.1:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406903.1:c.35+290A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406904.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406905.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406906.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406907.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406908.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406909.1:c.-53+61A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406910.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406911.1:c.-53+8A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406912.1:c.353+8A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

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cell surface A33 antigen isoform 3 precursor [Mus musculus]
cell surface A33 antigen isoform 3 precursor [Mus musculus]
gi|1344538310|ref|NP_001347855.1|

Protein
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript varia...
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript variant X25, mRNA
gi|1720360277|ref|XM_030244857.1|

Nucleotide
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript varia...
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript variant X23, mRNA
gi|1907073244|ref|XM_011243343.3|

Nucleotide
Mus musculus tripeptidyl peptidase II (Tpp2), transcript variant 2, mRNA
Mus musculus tripeptidyl peptidase II (Tpp2), transcript variant 2, mRNA
gi|887218381|ref|NM_001310540.1|

Nucleotide
zinc finger protein 317 isoform 1 [Homo sapiens]
zinc finger protein 317 isoform 1 [Homo sapiens]
gi|190610008|ref|NP_065984.3|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004486933	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 10, 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

SCV004486933

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 10, 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 Invitae, SCV004486933.1

#	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: Feb 28, 2024

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