NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) AND not specified - ClinVar (2024)

Somatic classification
of clinical impact:

None

Review status:

(0/4)

no assertion criteria provided

Somatic classification
of oncogenicity:

None

Review status:

(0/4)

no assertion criteria provided

NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)

Gene:

PMS2:PMS1 hom*olog 2, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 5987357 (on Assembly GRCh38)
• Chr7: 6026988 (on Assembly GRCh37)

Preferred name:

NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)

HGVS:

• NC_000007.14:g.5987357G>A
• NG_008466.1:g.26750C>T
• NM_000535.7:c.1408C>TMANE SELECT
• NM_001322003.2:c.1003C>T
• NM_001322004.2:c.1003C>T
• NM_001322005.2:c.1003C>T
• NM_001322006.2:c.1252C>T
• NM_001322007.2:c.1090C>T
• NM_001322008.2:c.1090C>T
• NM_001322009.2:c.1003C>T
• NM_001322010.2:c.847C>T
• NM_001322011.2:c.475C>T
• NM_001322012.2:c.475C>T
• NM_001322013.2:c.835C>T
• NM_001322014.2:c.1408C>T
• NM_001322015.2:c.1099C>T
• NP_000526.2:p.Pro470Ser
• NP_001308932.1:p.Pro335Ser
• NP_001308933.1:p.Pro335Ser
• NP_001308934.1:p.Pro335Ser
• NP_001308935.1:p.Pro418Ser
• NP_001308936.1:p.Pro364Ser
• NP_001308937.1:p.Pro364Ser
• NP_001308938.1:p.Pro335Ser
• NP_001308939.1:p.Pro283Ser
• NP_001308940.1:p.Pro159Ser
• NP_001308941.1:p.Pro159Ser
• NP_001308942.1:p.Pro279Ser
• NP_001308943.1:p.Pro470Ser
• NP_001308944.1:p.Pro367Ser
• LRG_161t1:c.1408C>T
• LRG_161:g.26750C>T
• LRG_161p1:p.Pro470Ser
• NC_000007.13:g.6026988G>A
• NM_000535.5:c.1408C>T
• NM_000535.6:c.1408C>T
• NP_000526.1:p.Pro470Ser
• NR_136154.1:n.1495C>T
• P54278:p.Pro470Ser
• p.P470S

Protein change:

P159S

Links:

UniProtKB: P54278#VAR_016134; dbSNP: rs1805321

NCBI 1000 Genomes Browser:

rs1805321

Molecular consequence:

• NM_000535.7:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322003.2:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322004.2:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322005.2:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322006.2:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322007.2:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322008.2:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322009.2:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322010.2:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322011.2:c.475C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322012.2:c.475C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322013.2:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322014.2:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322015.2:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136154.1:n.1495C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2

Description

p.Pro470Ser in Exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 45% (4560/10152) of Ashkenazi Jewis h chromosomes and 41% (52732/126656) of European chromosomes by the Genome Aggre gation Database (GnomAD, http://gnomad.broadinstitute.org; dbSNP rs1805321).