NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 21, 2024
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:: RCV005042191.1

Allele description [Variation Report for NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)]

NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)

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.943C>T (p.Arg315Ter)

Other names:

p.R315*:CGA>TGA

HGVS:

NC_000007.14:g.5992018G>A
NG_008466.1:g.22089C>T
NM_000535.7:c.943C>TMANE SELECT
NM_001322003.2:c.538C>T
NM_001322004.2:c.538C>T
NM_001322005.2:c.538C>T
NM_001322006.2:c.943C>T
NM_001322007.2:c.625C>T
NM_001322008.2:c.625C>T
NM_001322009.2:c.538C>T
NM_001322010.2:c.538C>T
NM_001322011.2:c.10C>T
NM_001322012.2:c.10C>T
NM_001322013.2:c.370C>T
NM_001322014.2:c.943C>T
NM_001322015.2:c.634C>T
NP_000526.2:p.Arg315Ter
NP_001308932.1:p.Arg180Ter
NP_001308933.1:p.Arg180Ter
NP_001308934.1:p.Arg180Ter
NP_001308935.1:p.Arg315Ter
NP_001308936.1:p.Arg209Ter
NP_001308937.1:p.Arg209Ter
NP_001308938.1:p.Arg180Ter
NP_001308939.1:p.Arg180Ter
NP_001308940.1:p.Arg4Ter
NP_001308941.1:p.Arg4Ter
NP_001308942.1:p.Arg124Ter
NP_001308943.1:p.Arg315Ter
NP_001308944.1:p.Arg212Ter
LRG_161t1:c.943C>T
LRG_161:g.22089C>T
NC_000007.13:g.6031649G>A
NM_000535.5:c.943C>T
NM_000535.6:c.943C>T
NR_136154.1:n.1030C>T
p.Arg315Stop
p.R315*

Protein change:

R124*

Links:

dbSNP: rs200640585

Molecular consequence:

NR_136154.1:n.1030C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000535.7:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322003.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322004.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322005.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322006.2:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322007.2:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322008.2:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322009.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322010.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322011.2:c.10C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322012.2:c.10C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322013.2:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322014.2:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001322015.2:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Name:: Mismatch repair cancer syndrome 4
Identifiers:: MONDO: MONDO:0030843; MedGen: C5436817; OMIM: 619101

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
SCV005674335	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 21, 2024)	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

SCV005674335

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 21, 2024)

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

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 Fulgent Genetics, Fulgent Genetics, SCV005674335.1

#	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: Jul 27, 2026

ClinVar

Relating variation to medicine