NM_000535.7(PMS2):c.2445+1G>A AND Lynch syndrome 4

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 25, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003451263.2

Allele description [Variation Report for NM_000535.7(PMS2):c.2445+1G>A]

NM_000535.7(PMS2):c.2445+1G>A

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.2445+1G>A

HGVS:

NC_000007.14:g.5977587C>T
NG_008466.1:g.36520G>A
NM_000535.7:c.2445+1G>AMANE SELECT
NM_001322003.2:c.2040+1G>A
NM_001322004.2:c.2040+1G>A
NM_001322005.2:c.2040+1G>A
NM_001322006.2:c.2289+1G>A
NM_001322007.2:c.2127+1G>A
NM_001322008.2:c.2127+1G>A
NM_001322009.2:c.2073+1G>A
NM_001322010.2:c.1884+1G>A
NM_001322011.2:c.1512+1G>A
NM_001322012.2:c.1512+1G>A
NM_001322013.2:c.1872+1G>A
NM_001322014.2:c.2478+1G>A
NM_001322015.2:c.2136+1G>A
NM_001406866.1:c.2631+1G>A
NM_001406868.1:c.2469+1G>A
NM_001406869.1:c.2337+1G>A
NM_001406870.1:c.2322+1G>A
NM_001406871.1:c.2301+1G>A
NM_001406872.1:c.2277+1G>A
NM_001406873.1:c.2247+1G>A
NM_001406874.1:c.2277+1G>A
NM_001406875.1:c.2169+1G>A
NM_001406876.1:c.2160+1G>A
NM_001406877.1:c.2136+1G>A
NM_001406878.1:c.2136+1G>A
NM_001406879.1:c.2136+1G>A
NM_001406880.1:c.2136+1G>A
NM_001406881.1:c.2136+1G>A
NM_001406882.1:c.2136+1G>A
NM_001406883.1:c.2127+1G>A
NM_001406884.1:c.2121+1G>A
NM_001406885.1:c.2109+1G>A
NM_001406886.1:c.2079+1G>A
NM_001406887.1:c.2073+1G>A
NM_001406888.1:c.2073+1G>A
NM_001406889.1:c.2040+1G>A
NM_001406890.1:c.2040+1G>A
NM_001406891.1:c.2040+1G>A
NM_001406892.1:c.2040+1G>A
NM_001406893.1:c.2040+1G>A
NM_001406894.1:c.2040+1G>A
NM_001406895.1:c.2040+1G>A
NM_001406896.1:c.2040+1G>A
NM_001406897.1:c.2040+1G>A
NM_001406898.1:c.2040+1G>A
NM_001406899.1:c.2040+1G>A
NM_001406900.1:c.1980+1G>A
NM_001406901.1:c.1971+1G>A
NM_001406902.1:c.1971+1G>A
NM_001406903.1:c.1959+1G>A
NM_001406904.1:c.1932+1G>A
NM_001406905.1:c.1932+1G>A
NM_001406906.1:c.1884+1G>A
NM_001406907.1:c.1884+1G>A
NM_001406908.1:c.1872+1G>A
NM_001406909.1:c.1872+1G>A
NM_001406910.1:c.1728+1G>A
NM_001406911.1:c.1674+1G>A
NM_001406912.1:c.1242+1G>A
LRG_161t1:c.2445+1G>A
LRG_161:g.36520G>A
NC_000007.13:g.6017218C>T
NM_000535.5:c.2445+1G>A

Links:

dbSNP: rs876661113

NCBI 1000 Genomes Browser:

rs876661113

Molecular consequence:

NM_000535.7:c.2445+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322003.2:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322004.2:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322005.2:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322006.2:c.2289+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322007.2:c.2127+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322008.2:c.2127+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322009.2:c.2073+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322010.2:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322011.2:c.1512+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322012.2:c.1512+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322013.2:c.1872+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322014.2:c.2478+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001322015.2:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406866.1:c.2631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406868.1:c.2469+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406869.1:c.2337+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406870.1:c.2322+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406871.1:c.2301+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406872.1:c.2277+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406873.1:c.2247+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406874.1:c.2277+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406875.1:c.2169+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406876.1:c.2160+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406877.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406878.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406879.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406880.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406881.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406882.1:c.2136+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406883.1:c.2127+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406884.1:c.2121+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406885.1:c.2109+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406886.1:c.2079+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406887.1:c.2073+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406888.1:c.2073+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406889.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406890.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406891.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406892.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406893.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406894.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406895.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406896.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406897.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406898.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406899.1:c.2040+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406900.1:c.1980+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406901.1:c.1971+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406902.1:c.1971+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406903.1:c.1959+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406904.1:c.1932+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406905.1:c.1932+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406906.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406907.1:c.1884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406908.1:c.1872+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406909.1:c.1872+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406910.1:c.1728+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406911.1:c.1674+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406912.1:c.1242+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Lynch syndrome 4 (LYNCH4)
Synonyms:: Colorectal cancer, hereditary nonpolyposis, type 4; Hereditary non-polyposis colorectal cancer, type 4
Identifiers:: MONDO: MONDO:0013699; MedGen: C1838333; Orphanet: 144; OMIM: 614337

Recent activity

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Mus musculus similar to cytochrome P450, 4a10 (MGC25972), mRNA
Mus musculus similar to cytochrome P450, 4a10 (MGC25972), mRNA
gi|28912920|ref|NM_177406.1|

Nucleotide
JGI_CAAO4010.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4010 3', mRNA...
JGI_CAAO4010.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4010 3', mRNA sequence
gi|58724545|gnl|dbEST|27641706|gb|C 87.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187609	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Sep 25, 2023)	unknown	clinical testing	Citation Link,
SCV004207863	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 10, 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

SCV004187609

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Sep 25, 2023)

unknown

clinical testing

Citation Link,

SCV004207863

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 10, 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Myriad Genetics, Inc., SCV004187609.1

#	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 pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

#	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

From Baylor Genetics, SCV004207863.1

#	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	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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