ClinVar

NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5977629 (on Assembly GRCh38)
• Chr7: 6017260 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)

HGVS:

• NC_000007.14:g.5977629G>A
• NG_008466.1:g.36478C>T
• NM_000535.7:c.2404C>TMANE SELECT
• NM_001322003.2:c.1999C>T
• NM_001322004.2:c.1999C>T
• NM_001322005.2:c.1999C>T
• NM_001322006.2:c.2248C>T
• NM_001322007.2:c.2086C>T
• NM_001322008.2:c.2086C>T
• NM_001322009.2:c.2032C>T
• NM_001322010.2:c.1843C>T
• NM_001322011.2:c.1471C>T
• NM_001322012.2:c.1471C>T
• NM_001322013.2:c.1831C>T
• NM_001322014.2:c.2437C>T
• NM_001322015.2:c.2095C>T
• NP_000526.2:p.Arg802Ter
• NP_001308932.1:p.Arg667Ter
• NP_001308933.1:p.Arg667Ter
• NP_001308934.1:p.Arg667Ter
• NP_001308935.1:p.Arg750Ter
• NP_001308936.1:p.Arg696Ter
• NP_001308937.1:p.Arg696Ter
• NP_001308938.1:p.Arg678Ter
• NP_001308939.1:p.Arg615Ter
• NP_001308940.1:p.Arg491Ter
• NP_001308941.1:p.Arg491Ter
• NP_001308942.1:p.Arg611Ter
• NP_001308943.1:p.Arg813Ter
• NP_001308944.1:p.Arg699Ter
• LRG_161t1:c.2404C>T
• LRG_161:g.36478C>T
• NC_000007.13:g.6017260G>A
• NM_000535.5:c.2404C>T
• NM_000535.6:c.2404C>T
• NR_136154.1:n.2448C>T
• p.R802*

This HGVS expression did not pass validation

Protein change:

R491*; ARG802TER

Links:

OMIM: 600259.0004; dbSNP: rs63751466

NCBI 1000 Genomes Browser:

rs63751466

Molecular consequence:

• NR_136154.1:n.2448C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000535.7:c.2404C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322003.2:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322004.2:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322005.2:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322006.2:c.2248C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322007.2:c.2086C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322008.2:c.2086C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322009.2:c.2032C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322010.2:c.1843C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322011.2:c.1471C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322012.2:c.1471C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322013.2:c.1831C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322014.2:c.2437C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001322015.2:c.2095C>T - nonsense - [Sequence Ontology: SO:0001587]