Full data view for gene PMS1

Information The variants shown are described using the NM_000534.4 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/+ _1_7i c.(?_-68)_1276+?del r.0? p.0? Maternal (inferred) - pathogenic g.(?_47630263)_(47657081_47672686)del - ex 1-7 del - PMS1_000036 - PubMed: Liu 2001, OMIM:var0001 - - Germline yes - - - - DNA Southern - - HNPCC1 - PubMed: Liu 2001 nephew of CW (III4) M - - - - - - - 1 Johan den Dunnen
+/+ _1_7i c.(?_-68)_1276+?del r.0? p.0? Maternal (inferred) - pathogenic g.(?_47630263)_(47657081_47672686)del - ex 1-7 del - PMS1_000036 - PubMed: Liu 2001, OMIM:var0001 - - Germline yes - - - - DNA Southern - - HNPCC1 - PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994 4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers F - - - - - - - 2 Johan den Dunnen
./. - c.79G>C r.(?) p.(Glu27Gln) Parent #1 - VUS g.190656614G>C g.189791888G>C - - PMS1_000032 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 3 Melissa DeRycke
./. - c.122A>C r.(?) p.(Asp41Ala) Unknown - likely pathogenic g.190656657A>C g.189791931A>C NM_000534.4(PMS1):c.122A>C p.(Asp41Ala) - PMS1_000034 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-059B PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.175G>A r.(?) p.(Glu59Lys) Parent #1 - VUS g.190660537G>A g.189795811G>A - - PMS1_000031 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 3 Melissa DeRycke
./. - c.175G>A r.(?) p.(Glu59Lys) Parent #1 - VUS g.190660537G>A g.189795811G>A - - PMS1_000031 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 6 Melissa DeRycke
./. - c.224C>T r.(?) p.(Thr75Ile) Parent #1 - VUS g.190660586C>T g.189795860C>T - - PMS1_000030 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.224C>T r.(?) p.(Thr75Ile) Parent #1 - VUS g.190660586C>T g.189795860C>T - - PMS1_000030 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 4 Melissa DeRycke
?/. 3i c.315+6G>A r.spl? p.(=) Parent #1 - VUS g.190660683G>A g.189795957G>A - - PMS1_000035 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
./. - c.401C>T r.(?) p.(Pro134Leu) Parent #1 - VUS g.190670463C>T g.189805737C>T - - PMS1_000029 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.479C>T r.(?) p.(Ser160Leu) Parent #1 - VUS g.190682803C>T g.189818077C>T - - PMS1_000012 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #1 - VUS g.190708712G>A g.189843986G>A - - PMS1_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.605G>A r.(?) p.(Arg202Lys) Parent #1 - VUS g.190708712G>A g.189843986G>A - - PMS1_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 15 Melissa DeRycke
?/. - c.605G>A r.(?) p.(Arg202Lys) Parent #1 - VUS g.190708712G>A g.189843986G>A - - PMS1_000013 96 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2066459 Germline - 96/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 96 Mohammed Faruq
?/. - c.605G>A r.(?) p.(Arg202Lys) Both (homozygous) - VUS g.190708712G>A g.189843986G>A - - PMS1_000013 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2066459 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
./. - c.608T>C r.(?) p.(Val203Ala) Parent #1 - VUS g.190708715T>C g.189843989T>C - - PMS1_000014 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/? 6 c.697C>T r.583_699del p.Ala195_Gln233del Parent #1 - VUS g.190708804C>T g.189844078C>T - - PMS1_000001 variant originally classified as disease-associated (Nicolaides 1994), but subsequently analysis revealed a disease-causing variant in MSH2 (Liu 2001), a role for the variant in lung cancer was not excluded PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994, OMIM:var0001 - - Germline - 1/40 cases - - - DNA, RNA PTT, RT-PCR, SEQ - - HNPCC1 - PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994 4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers F - - - - - - - 2 Johan den Dunnen
./. - c.829C>T r.(?) p.(Arg277*) Parent #1 - pathogenic g.190718671C>T g.189853945C>T - - PMS1_000015 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.985C>G r.(?) p.(Leu329Val) Parent #1 - VUS g.190718983C>G g.189854257C>G - - PMS1_000016 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1001C>T r.(?) p.(Thr334Met) Parent #1 - VUS g.190718999C>T g.189854273C>T - - PMS1_000017 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1181T>C r.(?) p.(Met394Thr) Parent #1 - VUS g.190719179T>C g.189854453T>C - - PMS1_000018 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1181T>C r.(?) p.(Met394Thr) Both (homozygous) - VUS g.190719179T>C g.189854453T>C - - PMS1_000018 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1306T>C r.(?) p.(Phe436Leu) Parent #1 - VUS g.190719304T>C g.189854578T>C - - PMS1_000019 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1501G>A r.(?) p.(Gly501Arg) Parent #1 - VUS g.190719499G>A g.189854773G>A - - PMS1_000020 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1501G>A r.(?) p.(Gly501Arg) Both (homozygous) - VUS g.190719499G>A g.189854773G>A - - PMS1_000020 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1586G>A r.(?) p.(Ser529Asn) Parent #1 - VUS g.190719584G>A g.189854858G>A - - PMS1_000021 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1609G>A r.(?) p.(Glu537Lys) Parent #1 - VUS g.190719607G>A g.189854881G>A - - PMS1_000022 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 5 Melissa DeRycke
./. - c.1643A>G r.(?) p.(Lys548Arg) Parent #1 - VUS g.190719641A>G g.189854915A>G - - PMS1_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1643A>G r.(?) p.(Lys548Arg) Both (homozygous) - VUS g.190719641A>G g.189854915A>G - - PMS1_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1678del r.(?) p.(Val560Leufs*11) Parent #1 - pathogenic g.190719676del g.189854950del - - PMS1_000024 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1706G>A r.(?) p.(Arg569Gln) Parent #1 - VUS g.190719704G>A g.189854978G>A - - PMS1_000025 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1744G>A r.(?) p.(Val582Ile) Parent #1 - VUS g.190719742G>A g.189855016G>A - - PMS1_000026 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1895A>G r.(?) p.(Asn632Ser) Parent #1 - VUS g.190728507A>G g.189863781A>G - - PMS1_000027 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 2 Melissa DeRycke
./. - c.1987G>T r.(?) p.(Ala663Ser) Parent #1 - VUS g.190728599G>T g.189863873G>T - - PMS1_000028 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2064delAAG - - Parent #1 - VUS g.190728676delAAG g.189863950delAAG - - PMS1_000010 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2141_2145del r.(?) p.(Asn714Serfs*2) Unknown ACMG VUS g.190728753_190728757del g.189864027_189864031del - - PMS1_000037 - - - rs750048736 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
./. - c.2167G>A r.(?) p.(Glu723Lys) Parent #1 - VUS g.190728779G>A g.189864053G>A - - PMS1_000011 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2195T>C r.(?) p.(Phe732Ser) Unknown - VUS g.190728807T>C - PMS1(NM_001321047.1):c.2195T>C (p.F732S) - ORMDL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2226del r.(?) p.(Glu743Argfs*2) Parent #1 - pathogenic g.190728838del g.189864112del - - PMS1_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2311C>A r.(?) p.(Pro771Thr) Parent #1 - VUS g.190728923C>A g.189864197C>A - - PMS1_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 2 Melissa DeRycke
./. - c.2377T>C r.(?) p.(Tyr793His) Parent #1 - VUS g.190732559T>C g.189867833T>C - - PMS1_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2377T>C r.(?) p.(Tyr793His) Both (homozygous) - VUS g.190732559T>C g.189867833T>C - - PMS1_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2417C>G r.(?) p.(Thr806Ser) Parent #1 - VUS g.190732599C>G g.189867873C>G - - PMS1_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2417C>G r.(?) p.(Thr806Ser) Both (homozygous) - VUS g.190732599C>G g.189867873C>G - - PMS1_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2444C>T r.(?) p.(Ala815Val) Parent #1 - VUS g.190732626C>T g.189867900C>T - - PMS1_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2540T>C r.(?) p.(Val847Ala) Parent #1 - VUS g.190738288T>C g.189873562T>C - - PMS1_000007 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2684A>G r.(?) p.(Glu895Gly) Unknown - likely pathogenic g.190742047A>G g.189877321A>G NM_000534.4(PMS1):c.2684A>G p.(Glu895Gly) - PMS1_000033 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-036A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.2755C>T r.(?) p.(Arg919Cys) Parent #1 - VUS g.190742118C>T g.189877392C>T - - PMS1_000008 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2780A>G r.(?) p.(Tyr927Cys) Parent #1 - VUS g.190742143A>G g.189877417A>G - - PMS1_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
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