Variant #0000008555 (NC_000007.14:g.5997349G>C, PMS2(NM_000535.5):c.780C>G)

Individual ID 00001505
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.5997349G>C
Reference -
DB-ID PMS2_000004 See all 63 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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Review status     
PMS2 NM_000535.5 ./- 7 c.780C>G p.(=) Hetero BRCA2 r.(=) -



Screenings


AscendingScreening ID     

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Owner     
0000001774 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 13-may-2020 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad