ClinVar

NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5987504 (on Assembly GRCh38)
• Chr7: 6027135 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)

HGVS:

• NC_000007.14:g.5987504G>A
• NG_008466.1:g.26603C>T
• NM_000535.7:c.1261C>TMANE SELECT
• NM_001322003.2:c.856C>T
• NM_001322004.2:c.856C>T
• NM_001322005.2:c.856C>T
• NM_001322006.2:c.1105C>T
• NM_001322007.2:c.943C>T
• NM_001322008.2:c.943C>T
• NM_001322009.2:c.856C>T
• NM_001322010.2:c.700C>T
• NM_001322011.2:c.328C>T
• NM_001322012.2:c.328C>T
• NM_001322013.2:c.688C>T
• NM_001322014.2:c.1261C>T
• NM_001322015.2:c.952C>T
• NP_000526.2:p.Arg421Ter
• NP_001308932.1:p.Arg286Ter
• NP_001308933.1:p.Arg286Ter
• NP_001308934.1:p.Arg286Ter
• NP_001308935.1:p.Arg369Ter
• NP_001308936.1:p.Arg315Ter
• NP_001308937.1:p.Arg315Ter
• NP_001308938.1:p.Arg286Ter
• NP_001308939.1:p.Arg234Ter
• NP_001308940.1:p.Arg110Ter
• NP_001308941.1:p.Arg110Ter
• NP_001308942.1:p.Arg230Ter
• NP_001308943.1:p.Arg421Ter
• NP_001308944.1:p.Arg318Ter
• LRG_161t1:c.1261C>T
• LRG_161:g.26603C>T
• NC_000007.13:g.6027135G>A
• NM_000535.5:c.1261C>T
• NM_000535.6:c.1261C>T
• NR_136154.1:n.1348C>T
• p.Arg421*
• p.Arg421X

This HGVS expression did not pass validation

Protein change:

R110*

Links:

dbSNP: rs587778617

NCBI 1000 Genomes Browser:

rs587778617

Molecular consequence:

• NR_136154.1:n.1348C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000535.7:c.1261C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322003.2:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322004.2:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322005.2:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322006.2:c.1105C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322007.2:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322008.2:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322009.2:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322010.2:c.700C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322011.2:c.328C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322012.2:c.328C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322013.2:c.688C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322014.2:c.1261C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322015.2:c.952C>T - nonsense - [Sequence Ontology: SO:0001587]