Unique variants in the RPS6KA3 gene

Information The variants shown are described using the NM_004586.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.20C>T r.(?) p.(Ala7Val) - likely benign g.20284731G>A g.20266613G>A RPS6KA3(NM_004586.2):c.20C>T (p.A7V) - RPS6KA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.70-73dup r.(=) p.(=) - VUS g.20253018dup g.20234900dup - - RPS6KA3_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.83T>C r.(?) p.(Ile28Thr) - VUS g.20252919A>G g.20234801A>G RPS6KA3(NM_004586.2):c.83T>C (p.I28T) - RPS6KA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.113T>G r.(?) p.(Ile38Ser) - benign, VUS g.20252889A>C g.20234771A>C I38S - RPS6KA3_000033 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Nijmegen
-?/. 2 - c.139A>G r.(?) p.(Ile47Val) - likely benign g.20227510T>C g.20209392T>C RPS6KA3(NM_004586.2):c.139A>G (p.I47V, p.(Ile47Val)) - RPS6KA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.213A>G r.(=), r.(?) p.(=), p.(Leu71=) - likely benign, VUS g.20227436T>C g.20209318T>C L71L, RPS6KA3(NM_004586.2):c.213A>G (p.L71=) - RPS6KA3_000018 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
+/. 1 - c.243+1G>T r.spl? p.? - pathogenic g.20227405C>A g.20209287C>A - - RPS6KA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.244-5T>C r.spl? p.? - likely benign g.20222226A>G g.20204108A>G RPS6KA3(NM_004586.2):c.244-5T>C (p.?) - RPS6KA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1 c.256A>T r.(?) p.(Lys86*) - pathogenic (dominant) g.20222209T>A g.20204091T>A - - RPS6KA3_000039 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.325+2del r.spl? p.? - pathogenic g.20222138del g.20204020del - - RPS6KA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.406+12C>A r.(=) p.(=) - likely benign g.20213171G>T - RPS6KA3(NM_004586.3):c.406+12C>A - RPS6KA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.609del r.(?) p.(Glu204LysfsTer6) - pathogenic g.20206638del g.20188520del - - RPS6KA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.629C>G r.(?) p.(Thr210Arg) - pathogenic g.20206617G>C g.20188499G>C - - RPS6KA3_000004 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.739C>T r.(?) p.(Gln247Ter) - pathogenic g.20205981G>A - - - RPS6KA3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.775-64del r.(=) p.(=) - VUS g.20204548del g.20186430del - - RPS6KA3_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.775-15T>C r.(=) p.(=) - likely benign g.20204499A>G - RPS6KA3(NM_004586.3):c.775-15T>C - RPS6KA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.798C>A r.(?) p.(Leu266=) - benign g.20204461G>T g.20186343G>T RPS6KA3(NM_004586.3):c.798C>A (p.L266=) - RPS6KA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.803T>A r.(?) p.(Phe268Tyr) - VUS g.20204456A>T - RPS6KA3(NM_004586.2):c.803T>A (p.F268Y) - RPS6KA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.827C>A r.(?) p.(Thr276Lys) - pathogenic g.20204432G>T g.20186314G>T RPS6KA3 T276K - RPS6KA3_000038 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.846-6A>G r.(=) p.(=) - likely benign g.20195208T>C g.20177090T>C RPS6KA3(NM_004586.3):c.846-6A>G - RPS6KA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.913C>T r.(?) p.(Arg305Ter) - pathogenic g.20195135G>A g.20177017G>A - - RPS6KA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.932T>G r.(?) p.(Leu311Ter) - pathogenic g.20195116A>C g.20176998A>C RPS6KA3(NM_004586.2):c.932T>G - RPS6KA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.935G>A r.(?) p.(Gly312Asp) - likely pathogenic g.20194616C>T g.20176498C>T RPS6KA3(NM_004586.3):c.935G>A (p.G312D) - RPS6KA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.943C>A r.(?) p.(Pro315Thr) - VUS g.20194608G>T - RPS6KA3(NM_004586.2):c.943C>A (p.P315T) - RPS6KA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.969del r.(?) p.(Arg323SerfsTer8) - pathogenic g.20194582del g.20176464del - - RPS6KA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1000-10del r.(=) p.(=) - likely benign g.20194489del g.20176371del RPS6KA3(NM_004586.3):c.1000-10delT - RPS6KA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1000-1G>A r.spl? p.? - pathogenic g.20194471C>T - RPS6KA3(NM_004586.2):c.1000-1G>A - RPS6KA3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1080G>A r.(?) p.(Glu360=) - benign g.20194390C>T g.20176272C>T RPS6KA3(NM_004586.2):c.1080G>A (p.E360=) - RPS6KA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13i c.1103-2A>G r.spl p.? - pathogenic g.20193408T>C g.20175290T>C - - RPS6KA3_000034 - - - - De novo yes - - - - Wenjuan Qiu
-?/. 1 - c.1187G>A r.(?) p.(Ser396Asn) - likely benign g.20193322C>T g.20175204C>T RPS6KA3(NM_004586.2):c.1187G>A (p.S396N) - RPS6KA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1198C>T r.(?) p.(Gln400Ter) - pathogenic g.20193311G>A g.20175193G>A - - RPS6KA3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1246A>G r.(?) p.(Ile416Val) - likely benign g.20190971T>C g.20172853T>C RPS6KA3(NM_004586.2):c.1246A>G (p.I416V, p.(Ile416Val)) - RPS6KA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.1264T>G r.(?) p.(Tyr422Asp) - likely pathogenic g.20190953A>C - RPS6KA3(NM_004586.2):c.1264T>G (p.Y422D) - RPS6KA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1304_1307del r.(?) p.(Val435Alafs*15) - pathogenic g.20190912_20190915del g.20172794_20172797del - - RPS6KA3_000054 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045920 Germline - 1/2784 individuals - - - Mohammed Faruq
?/. 1 - c.1353G>A r.(?) p.(Lys451=) - VUS g.20190864C>T g.20172746C>T - - RPS6KA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1443+5G>A r.spl? p.? - VUS g.20187515C>T g.20169397C>T - - RPS6KA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1487T>G r.(?) p.(Met496Arg) - likely pathogenic g.20185822A>C - RPS6KA3(NM_004586.2):c.1487T>G (p.M496R) - RPS6KA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1488G>A r.(?) p.(Met496Ile) - VUS g.20185821C>T g.20167703C>T RPS6KA3(NM_004586.2):c.1488G>A (p.(Met496Ile)) - RPS6KA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1578C>T r.(?) p.(Thr526=) - likely benign g.20185731G>A g.20167613G>A RPS6KA3(NM_004586.2):c.1578C>T (p.T526=) - RPS6KA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1579G>A r.(?) p.(Val527Ile) - VUS g.20185730C>T - RPS6KA3(NM_004586.2):c.1579G>A (p.V527I) - RPS6KA3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
./. 1 - c.1630A>G r.(?) p.(Asn544Asp) - pathogenic g.20183151T>C g.20165033T>C RPS6KA3 N544D - RPS6KA3_000037 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1630A>T r.(?) p.(Asn544Tyr) - likely pathogenic g.20183151T>A g.20165033T>A - - RPS6KA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1676T>A r.(=) p.(Ile559Asn) - pathogenic g.20183105A>T g.20164987A>T - - RPS6KA3_000008 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.1703dup r.(?) p.(Arg569Glufs*28) - pathogenic g.20183078dup g.20164960dup - - RPS6KA3_000005 - - - - Germline - - - - - Andreas Laner
+?/. 1 - c.1742C>T r.(?) p.(Thr581Ile) - likely pathogenic g.20183039G>A g.20164921G>A - - RPS6KA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1765-1G>C r.spl? p.? - pathogenic g.20181159C>G g.20163041C>G - - RPS6KA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 17 c.1784A>G r.(?) p.(Tyr595Cys) ACMG likely pathogenic g.20181139T>C g.20163021T>C - - RPS6KA3_000061 - PubMed: Squeo 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1921_1922del r.(?) p.(Ser641TrpfsTer72) - pathogenic g.20179799_20179800del g.20161681_20161682del RPS6KA3(NM_004586.3):c.1921_1922delAG (p.S641Wfs*72) - RPS6KA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2073C>T r.(?) p.(Asn691=) - likely benign g.20174254G>A - RPS6KA3(NM_004586.2):c.2073C>T (p.N691=) - RPS6KA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 22 c.2135G>A r.(?) p.(Arg712His) - VUS g.20173604C>T g.20155486C>T - - RPS6KA3_000063 - PubMed: Ganapathy 2019 - rs1017565774 Germline - - - - - Johan den Dunnen
-/., -?/., ?/. 6 - c.2168G>A r.(?) p.(Arg723His) - benign, likely benign, VUS g.20173571C>T g.20155453C>T R723H, 1 more item - RPS6KA3_000036 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.2185C>A r.(?) p.(Arg729=) - likely benign g.20173554G>T g.20155436G>T RPS6KA3(NM_004586.2):c.2185C>A (p.R729=) - RPS6KA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2185C>T r.(?) p.(Arg729Trp) - pathogenic g.20173554G>A g.20155436G>A RPS6KA3(NM_004586.3):c.2185C>T (p.R729W) - RPS6KA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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