ClinVar

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:

• Chr7: 5992018 (on Assembly GRCh38)
• Chr7: 6031649 (on Assembly GRCh37)

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*

This HGVS expression did not pass validation

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]