ClinVar

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5982986 (on Assembly GRCh38)
• Chr7: 6022617 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

HGVS:

• NC_000007.14:g.5982986G>A
• NG_008466.1:g.31121C>T
• NM_000535.7:c.2012C>TMANE SELECT
• NM_001322003.2:c.1607C>T
• NM_001322004.2:c.1607C>T
• NM_001322005.2:c.1607C>T
• NM_001322006.2:c.1856C>T
• NM_001322007.2:c.1694C>T
• NM_001322008.2:c.1694C>T
• NM_001322009.2:c.1607C>T
• NM_001322010.2:c.1451C>T
• NM_001322011.2:c.1079C>T
• NM_001322012.2:c.1079C>T
• NM_001322013.2:c.1439C>T
• NM_001322014.2:c.2012C>T
• NM_001322015.2:c.1703C>T
• NP_000526.2:p.Thr671Met
• NP_001308932.1:p.Thr536Met
• NP_001308933.1:p.Thr536Met
• NP_001308934.1:p.Thr536Met
• NP_001308935.1:p.Thr619Met
• NP_001308936.1:p.Thr565Met
• NP_001308937.1:p.Thr565Met
• NP_001308938.1:p.Thr536Met
• NP_001308939.1:p.Thr484Met
• NP_001308940.1:p.Thr360Met
• NP_001308941.1:p.Thr360Met
• NP_001308942.1:p.Thr480Met
• NP_001308943.1:p.Thr671Met
• NP_001308944.1:p.Thr568Met
• LRG_161t1:c.2012C>T
• LRG_161:g.31121C>T
• NC_000007.13:g.6022617G>A
• NM_000535.5:c.2012C>T
• NM_000535.6:c.2012C>T
• NM_001322014.2:c.2012C>T
• NR_136154.1:n.2099C>T
• p.T671M

This HGVS expression did not pass validation

Protein change:

T360M

Links:

dbSNP: rs587780046

NCBI 1000 Genomes Browser:

rs587780046

Molecular consequence:

• NM_000535.7:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.1607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.1607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.1607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322006.2:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.1607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322010.2:c.1451C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.1439C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.2099C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

4