ClinVar

NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5973442 (on Assembly GRCh38)
• Chr7: 6013073 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile)

HGVS:

• NC_000007.14:g.5973442G>A
• NG_008466.1:g.40665C>T
• NM_000535.7:c.2546C>TMANE SELECT
• NM_001322003.2:c.2141C>T
• NM_001322004.2:c.2141C>T
• NM_001322005.2:c.2141C>T
• NM_001322006.2:c.2390C>T
• NM_001322007.2:c.2228C>T
• NM_001322008.2:c.2228C>T
• NM_001322009.2:c.2174C>T
• NM_001322010.2:c.1985C>T
• NM_001322011.2:c.1613C>T
• NM_001322012.2:c.1613C>T
• NM_001322013.2:c.1973C>T
• NM_001322014.2:c.2579C>T
• NM_001322015.2:c.2237C>T
• NP_000526.2:p.Thr849Ile
• NP_001308932.1:p.Thr714Ile
• NP_001308933.1:p.Thr714Ile
• NP_001308934.1:p.Thr714Ile
• NP_001308935.1:p.Thr797Ile
• NP_001308936.1:p.Thr743Ile
• NP_001308937.1:p.Thr743Ile
• NP_001308938.1:p.Thr725Ile
• NP_001308939.1:p.Thr662Ile
• NP_001308940.1:p.Thr538Ile
• NP_001308941.1:p.Thr538Ile
• NP_001308942.1:p.Thr658Ile
• NP_001308943.1:p.Thr860Ile
• NP_001308944.1:p.Thr746Ile
• LRG_161t1:c.2546C>T
• LRG_161:g.40665C>T
• NC_000007.13:g.6013073G>A
• NM_000535.5:c.2546C>T
• NM_000535.6:c.2546C>T
• NR_136154.1:n.2590C>T

This HGVS expression did not pass validation

Protein change:

T538I

Links:

dbSNP: rs876660627

NCBI 1000 Genomes Browser:

rs876660627

Molecular consequence:

• NM_000535.7:c.2546C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322006.2:c.2390C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.2228C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.2228C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.2174C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322010.2:c.1985C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.1973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.2579C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.2237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.2590C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]