Full data view for gene PRDM5

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_018699.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? r.spl p.? Both (homozygous) - pathogenic (recessive) g.? - NM_018699.2:c.343+2T>C - TRAPPC11_000000 - PubMed: Alazami 2016 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam36 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.17T>G r.(?) p.(Val6Gly) Both (homozygous) - likely pathogenic g.121843747A>C g.120922592A>C - - PRDM5_000044 ACMG PM2, PM4, PP3 PubMed: Tuysuz 2022 VCV000981042.1 - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat121 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.93+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.121843670C>T g.120922515C>T - - PRDM5_000041 - PubMed: Burkitt Wright 2011 - - Germline - - - - - DNA SEQ - - EDS Fam901Pat04 PubMed: Burkitt Wright 2011 family - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 1i c.93+2T>C r.0? p.? Both (homozygous) - pathogenic g.121843669A>G g.120922514A>G - - PRDM5_000005 - PubMed: Aldahmesh 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BCS Pat1 PubMed: Aldahmesh 2012 healthy first cousins parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. 1i c.93+5G>A r.0? p.0? Both (homozygous) - likely pathogenic g.121843666C>T g.120922511C>T - - PRDM5_000001 homozygosity mapping - - - Germline yes - - - - DNA SEQ, SEQ-NG - - BCS2 FamPatIV5 PubMed: Micheal 2016, Journal: Micheal 2016 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Pakistan - - - - - 4 Shazia Micheal
?/. - c.128G>C r.(?) p.(Arg43Thr) Unknown - VUS g.121828678C>G g.120907523C>G PRDM5(NM_018699.3):c.128G>C (p.R43T) - PRDM5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - VUS g.121774644G>A g.120853489G>A PRDM5(NM_018699.3):c.229C>T (p.R77W) - PRDM5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - likely pathogenic (recessive) g.121774626G>A g.120853471G>A - - PRDM5_000032 - PubMed: Porter 2015 - - Germline yes - - - - DNA SEQ blood - BCS2 Pat4 PubMed: Porter 2015 - F ? Turkey white - - - - 1 Louise Porter
-?/. - c.252C>T r.(?) p.(Phe84=) Unknown - likely benign g.121774621G>A - PRDM5(NM_018699.4):c.252C>T (p.F84=) - PRDM5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300+17C>T r.(=) p.(=) Unknown - likely benign g.121774556G>A - PRDM5(NM_018699.4):c.300+17C>T - PRDM5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic (recessive) g.121742481T>C g.120821326T>C - - PRDM5_000040 - PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - EDS Fam902Pat03 PubMed: Burkitt Wright 2011 family, 2 affected - yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.320A>G r.(?) p.(Tyr107Cys) Both (homozygous) - pathogenic (recessive) g.121742481T>C g.120821326T>C - - PRDM5_000040 - PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - EDS Fam902Pat05 PubMed: Burkitt Wright 2011 relative - yes Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.342A>C r.(?) p.(Glu114Asp) Unknown - benign g.121742459T>G g.120821304T>G PRDM5(NM_018699.3):c.342A>C (p.E114D) - PRDM5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342A>C r.(?) p.(Glu114Asp) Parent #1 - likely benign g.121742459T>G g.120821304T>G - - PRDM5_000021 - PubMed: Burkitt Wright 2011 - - Germline - 1/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 1 Johan den Dunnen
+/. 4 c.400G>T r.0? p.(Glu134*) Both (homozygous) - pathogenic (recessive) g.121742401C>A g.120821246C>A - - PRDM5_000003 - PubMed: Porter 2015 - - Germline yes - - - - DNA SEQ blood - BCS2 Pat5 PubMed: Porter 2015 - F ? Spain white - - - - 1 Louise Porter
-/. - c.491A>T r.(?) p.(Lys164Ile) Unknown - benign g.121739667T>A g.120818512T>A PRDM5(NM_018699.4):c.491A>T (p.K164I) - PRDM5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491A>T r.(?) p.(Lys164Ile) Parent #1 - likely benign g.121739667T>A g.120818512T>A - - PRDM5_000017 - PubMed: Burkitt Wright 2011 - - Germline - 16/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 16 Johan den Dunnen
-?/. - c.491A>T r.(?) p.(Lys164Ile) Both (homozygous) - likely benign g.121739667T>A g.120818512T>A - - PRDM5_000017 - PubMed: Burkitt Wright 2011 - - Germline - 1/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 1 Johan den Dunnen
-?/. - c.544C>T r.(?) p.(Leu182Phe) Parent #1 - likely benign g.121739614G>A g.120818459G>A - - PRDM5_000039 - PubMed: Burkitt Wright 2011 - - Germline - 1/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 1 Johan den Dunnen
-?/. - c.651-21_651-20del r.(=) p.(=) Unknown - likely benign g.121738102_121738103del - PRDM5(NM_018699.4):c.651-21_651-20delCT - PRDM5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.660G>A r.(?) p.(Gln220=) Unknown - benign g.121738070C>T g.120816915C>T PRDM5(NM_018699.4):c.660G>A (p.(Gln220=), p.Q220=) - PRDM5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660G>A r.(?) p.(Gln220=) Unknown - likely benign g.121738070C>T - PRDM5(NM_018699.4):c.660G>A (p.(Gln220=), p.Q220=) - PRDM5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666A>T r.(?) p.(Thr222=) Unknown - likely benign g.121738064T>A g.120816909T>A PRDM5(NM_018699.3):c.666A>T (p.T222=) - PRDM5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.681A>G r.(?) p.(Leu227=) Unknown - benign g.121738049T>C g.120816894T>C PRDM5(NM_018699.4):c.681A>G (p.L227=) - PRDM5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.713_716del r.(?) p.(Val238AlafsTer35) Both (homozygous) - pathogenic (recessive) g.121738016_121738019del g.120816861_120816864del - - PRDM5_000038 711_714delTGTT PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS FamK921Pat03 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
-?/. - c.757C>A r.(?) p.(Gln253Lys) Unknown - likely benign g.121737716G>T - PRDM5(NM_018699.3):c.757C>A (p.Q253K) - PRDM5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.769C>T r.(?) p.(Arg257Trp) Unknown - VUS g.121737704G>A g.120816549G>A PRDM5(NM_018699.4):c.769C>T (p.R257W) - PRDM5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849G>A r.(?) p.(Gln283=) Unknown - benign g.121737624C>T g.120816469C>T PRDM5(NM_018699.4):c.849G>A (p.Q283=) - PRDM5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.866-20G>T r.(=) p.(=) Unknown - likely benign g.121732624C>A g.120811469C>A PRDM5(NM_018699.4):c.866-20G>T - PRDM5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.946-20_946-17del r.(=) p.(=) Unknown - likely benign g.121720919_121720922del - PRDM5(NM_018699.4):c.946-20_946-17delGTCT - PRDM5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i_14i c.(945+1_946-1)_(1623+1_1623+11000)del r.(946_1623del) p.(Ile316_Arg541del) Both (homozygous) - pathogenic (recessive) g.(121664708_121675707)_(121720901_121732524)del g.(120743553_120754552)_(120799746_120811369)del 52.46kb deletion, not in 454 control chromosomes - PRDM5_000034 del ex9-14 PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA arrayCGH, SEQ - - BCS FamBCS-001PatIV4 PubMed: Burkitt Wright 2011 5-generation family, 9 affected (9F) F yes Pakistan - - - - - 9 Johan den Dunnen
+/. 8i_14i c.(945+1_946-1)_(1623+1_1623+11000)del r.(946_1623del) p.(Ile316_Arg541del) Both (homozygous) - pathogenic (recessive) g.(121664708_121675707)_(121720901_121732524)del g.(120743553_120754552)_(120799746_120811369)del 52.46kb deletion, not in 454 control chromosomes - PRDM5_000034 del ex9-14 PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA arrayCGH, SEQ - - BCS FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 8i_14i c.(945+1_946-1)_(1623+1_1623+11000)del r.(946_1623del) p.(Ile316_Arg541del) Both (homozygous) - pathogenic (recessive) g.(121664708_121675707)_(121720901_121732524)del g.(120743553_120754552)_(120799746_120811369)del 52.46kb deletion, not in 454 control chromosomes - PRDM5_000034 del ex9-14 PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA arrayCGH, SEQ - - BCS FamBCS-001PatIV8 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 8i_14i c.(945+1_946-1)_(1623+1_1623+11000)del r.(946_1623del) p.(Ile316_Arg541del) Both (homozygous) - pathogenic (recessive) g.(121664708_121675707)_(121720901_121732524)del g.(120743553_120754552)_(120799746_120811369)del 52.46kb deletion, not in 454 control chromosomes - PRDM5_000034 del ex9-14 PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA arrayCGH, SEQ - - BCS FamBCS-001PatIV9 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 8i_14i c.(945+1_946-1)_(1623+1_1623+11000)del r.(946_1623del) p.(Ile316_Arg541del) Both (homozygous) - pathogenic (recessive) g.(121664708_121675707)_(121720901_121732524)del g.(120743553_120754552)_(120799746_120811369)del 52.46kb deletion, not in 454 control chromosomes - PRDM5_000034 del ex9-14 PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA arrayCGH, SEQ - - BCS FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 9 c.974del r.(?) p.(Cys325Leufs*2) Both (homozygous) - pathogenic g.121720872del g.120799717del - - PRDM5_000004 - PubMed: Micheal 2016, Journal: Micheal 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat1 PubMed: Micheal 2016, Journal: Micheal 2016 sporadic patient M no Serbia - - - - - 1 Shazia Micheal
+/. - c.974del r.(?) p.(Cys325LeufsTer2) Both (homozygous) ACMG pathogenic (recessive) g.121720872del g.120799717del c.974delG - PRDM5_000004 ACMG PVS1, PM2, PP3, PP5 PubMed: Marinakis 2021 - rs766853150 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 9128 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.974del r.(?) p.(Cys325LeufsTer2) Both (homozygous) - pathogenic (recessive) g.121720872del g.120799717del - - PRDM5_000004 974delG PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS FamK923Pat03 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1017G>A r.(?) p.(Met339Ile) Unknown - VUS g.121720829C>T g.120799674C>T PRDM5(NM_018699.4):c.1017G>A (p.M339I) - PRDM5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031-15T>C r.(=) p.(=) Unknown - likely benign g.121719594A>G g.120798439A>G PRDM5(NM_018699.4):c.1031-15T>C - PRDM5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1031-6dup r.(=) p.(=) Unknown - benign g.121719591dup g.120798436dup PRDM5(NM_018699.4):c.1031-6dupT - PRDM5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1066T>A r.(?) p.(Ser356Thr) Unknown - benign g.121719544A>T g.120798389A>T PRDM5(NM_018699.4):c.1066T>A (p.S356T) - PRDM5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1066T>A r.(?) p.(Ser356Thr) Parent #1 - likely benign g.121719544A>T g.120798389A>T - - PRDM5_000008 - PubMed: Burkitt Wright 2011 - - Germline - 15/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 15 Johan den Dunnen
-?/. - c.1102G>A r.(?) p.(Val368Ile) Parent #1 - likely benign g.121719508C>T g.120798353C>T - - PRDM5_000037 - PubMed: Burkitt Wright 2011 - - Germline - 1/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 1 Johan den Dunnen
-?/. - c.1113C>A r.(?) p.(Ser371Arg) Parent #1 - likely benign g.121719497G>T g.120798342G>T - - PRDM5_000036 - PubMed: Burkitt Wright 2011 - - Germline - 2/401 control individuals - - - DNA SEQ - - Healthy/Control controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - 2 Johan den Dunnen
-?/. - c.1212C>T r.(?) p.(Phe404=) Unknown - likely benign g.121706223G>A g.120785068G>A PRDM5(NM_018699.3):c.1212C>T (p.F404=) - PRDM5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1234T>C r.(?) p.(Leu412=) Unknown - benign g.121706201A>G g.120785046A>G PRDM5(NM_018699.4):c.1234T>C (p.L412=) - PRDM5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1241G>T r.(?) p.(Arg414Leu) Unknown - VUS g.121706194C>A g.120785039C>A PRDM5(NM_018699.3):c.1241G>T (p.R414L) - PRDM5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1273A>G r.(?) p.(Ile425Val) Unknown - benign g.121706162T>C g.120785007T>C PRDM5(NM_018699.4):c.1273A>G (p.I425V) - PRDM5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1283-5C>T r.spl? p.? Unknown - benign g.121702463G>A g.120781308G>A PRDM5(NM_018699.3):c.1283-5C>T, PRDM5(NM_018699.4):c.1283-5C>T - PRDM5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1283-5C>T r.spl? p.? Unknown - likely benign g.121702463G>A g.120781308G>A PRDM5(NM_018699.3):c.1283-5C>T, PRDM5(NM_018699.4):c.1283-5C>T - PRDM5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1517_1527del r.(?) p.(Val506GlufsTer5) Both (homozygous) - pathogenic (recessive) g.121698354_121698364del g.120777199_120777209del - - PRDM5_000035 1517_1527delTTCATATCCGG PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS Fam914Pat04 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.1517_1527del r.(?) p.(Val506GlufsTer5) Both (homozygous) - pathogenic (recessive) g.121698354_121698364del g.120777199_120777209del - - PRDM5_000035 1517_1527delTTCATATCCGG PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS Fam914Pat06 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1633T>C r.(?) p.(Tyr545His) Unknown - VUS g.121631559A>G - PRDM5(NM_018699.3):c.1633T>C (p.Y545H) - PRDM5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1768C>T r.(?) p.(Arg590Ter) Both (homozygous) - pathogenic (recessive) g.121616391G>A g.120695236G>A - - PRDM5_000033 - PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS FamBCS-002PatV1 PubMed: Burkitt Wright 2011 5-generation family, 4 affected (2F, 2M) M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.1768C>T r.(?) p.(Arg590Ter) Both (homozygous) - pathogenic (recessive) g.121616391G>A g.120695236G>A - - PRDM5_000033 - PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS FamBCS-002PatV4 PubMed: Burkitt Wright 2011 nephew F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1768C>T r.(?) p.(Arg590Ter) Both (homozygous) - pathogenic (recessive) g.121616391G>A g.120695236G>A - - PRDM5_000033 - PubMed: Burkitt Wright 2011 - - Germline yes - - - - DNA SEQ - - BCS FamBCS-002PatV5 PubMed: Burkitt Wright 2011 niece M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. 16 c.1879G>A r.(?) p.(Val627Ile) Unknown - VUS g.121616280C>T g.120695125C>T - - PRDM5_000043 - PubMed: Hall 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS AN RPID75 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.*120T>C r.(=) p.(=) Parent #1 - VUS g.121616146A>G g.120694991A>G - - PRDM5_000025 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77157999 Germline - 13/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
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