Full data view for gene RPS6KA3

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

66 entries on 1 page. Showing entries 1 - 66.
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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.20C>T r.(?) p.(Ala7Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70-73dup r.(=) p.(=) Unknown - VUS g.20253018dup g.20234900dup - - RPS6KA3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.83T>C r.(?) p.(Ile28Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.113T>G r.(?) p.(Ile38Ser) Unknown - benign g.20252889A>C g.20234771A>C - - RPS6KA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.113T>G r.(?) p.(Ile38Ser) Parent #1 - VUS g.20252889A>C g.20234771A>C I38S - RPS6KA3_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.139A>G r.(?) p.(Ile47Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.139A>G r.(?) p.(Ile47Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213A>G r.(?) p.(Leu71=) Unknown - likely benign g.20227436T>C g.20209318T>C RPS6KA3(NM_004586.2):c.213A>G (p.L71=) - RPS6KA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.213A>G r.(=) p.(=) Parent #1 - VUS g.20227436T>C g.20209318T>C L71L - RPS6KA3_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.243+1G>T r.spl? p.? Unknown - pathogenic g.20227405C>A g.20209287C>A - - RPS6KA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.244-5T>C r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.256A>T r.(?) p.(Lys86*) Unknown - pathogenic (dominant) g.20222209T>A g.20204091T>A - - RPS6KA3_000039 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat06 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.325+2del r.spl? p.? Unknown - pathogenic g.20222138del g.20204020del - - RPS6KA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.334C>T r.(?) p.(Arg112*) Unknown - pathogenic g.20213255G>A - - - RPS6KA3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406+12C>A r.(=) p.(=) Unknown - likely benign g.20213171G>T - RPS6KA3(NM_004586.3):c.406+12C>A - RPS6KA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.609del r.(?) p.(Glu204LysfsTer6) Unknown - pathogenic g.20206638del g.20188520del - - RPS6KA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629C>G r.(?) p.(Thr210Arg) Parent #1 - pathogenic g.20206617G>C g.20188499G>C - - RPS6KA3_000004 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.739C>T r.(?) p.(Gln247Ter) Unknown - pathogenic g.20205981G>A - - - RPS6KA3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775-64del r.(=) p.(=) Unknown - VUS g.20204548del g.20186430del - - RPS6KA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.775-15T>C r.(=) p.(=) Unknown - likely benign g.20204499A>G - RPS6KA3(NM_004586.3):c.775-15T>C - RPS6KA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.798C>A r.(?) p.(Leu266=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803T>A r.(?) p.(Phe268Tyr) Unknown - VUS g.20204456A>T - RPS6KA3(NM_004586.2):c.803T>A (p.F268Y) - RPS6KA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.827C>A r.(?) p.(Thr276Lys) Maternal (inferred) - pathogenic g.20204432G>T g.20186314G>T RPS6KA3 T276K - RPS6KA3_000038 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD64 PubMed: Hu 2016 family, 1 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.846-6A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.913C>T r.(?) p.(Arg305Ter) Unknown - pathogenic g.20195135G>A g.20177017G>A - - RPS6KA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.932T>G r.(?) p.(Leu311Ter) Unknown - pathogenic g.20195116A>C g.20176998A>C RPS6KA3(NM_004586.2):c.932T>G - RPS6KA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.932T>G r.(?) p.(Leu311Ter) Unknown ACMG pathogenic (dominant) g.20195116A>C g.20176998A>C - - RPS6KA3_000043 ACMG PVS1, PM1, PM2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8104 PubMed: Marinakis 2021 - F - Greece - - 0 - - 1 Jan Traeger-Synodinos
+?/. - c.935G>A r.(?) p.(Gly312Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943C>A r.(?) p.(Pro315Thr) Unknown - VUS g.20194608G>T - RPS6KA3(NM_004586.2):c.943C>A (p.P315T) - RPS6KA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.969del r.(?) p.(Arg323SerfsTer8) Unknown - pathogenic g.20194582del g.20176464del - - RPS6KA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000-10del r.(=) p.(=) Unknown - likely benign g.20194489del g.20176371del RPS6KA3(NM_004586.3):c.1000-10delT - RPS6KA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1000-1G>A r.spl? p.? Unknown - pathogenic g.20194471C>T - RPS6KA3(NM_004586.2):c.1000-1G>A - RPS6KA3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080G>A r.(?) p.(Glu360=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13i c.1103-2A>G r.spl p.? Unknown - pathogenic g.20193408T>C g.20175290T>C - - RPS6KA3_000034 - - - - De novo yes - - 0 - DNA SEQ, SEQ-NG-I blood - ID P25 - - F no China - >21y - - - 1 Wenjuan Qiu
-?/. - c.1187G>A r.(?) p.(Ser396Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1198C>T r.(?) p.(Gln400Ter) Unknown - pathogenic g.20193311G>A g.20175193G>A - - RPS6KA3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1246A>G r.(?) p.(Ile416Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1246A>G r.(?) p.(Ile416Val) Unknown - likely benign g.20190971T>C - RPS6KA3(NM_004586.2):c.1246A>G (p.I416V, p.(Ile416Val)) - RPS6KA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1264T>G r.(?) p.(Tyr422Asp) Unknown - likely pathogenic g.20190953A>C - RPS6KA3(NM_004586.2):c.1264T>G (p.Y422D) - RPS6KA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1304_1307del r.(?) p.(Val435Alafs*15) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1353G>A r.(?) p.(Lys451=) Unknown - VUS g.20190864C>T g.20172746C>T - - RPS6KA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391T>A r.(?) p.(Ile464Asn) Unknown - VUS g.20187572A>T - RPS6KA3(NM_004586.2):c.1391T>A (p.I464N) - RPS6KA3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1443+5G>A r.spl? p.? Unknown - VUS g.20187515C>T g.20169397C>T - - RPS6KA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1487T>G r.(?) p.(Met496Arg) Unknown - likely pathogenic g.20185822A>C - RPS6KA3(NM_004586.2):c.1487T>G (p.M496R) - RPS6KA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1488G>A r.(?) p.(Met496Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1578C>T r.(?) p.(Thr526=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1579G>A r.(?) p.(Val527Ile) Unknown - VUS g.20185730C>T - RPS6KA3(NM_004586.2):c.1579G>A (p.V527I) - RPS6KA3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1630A>G r.(?) p.(Asn544Asp) Maternal (confirmed) - pathogenic g.20183151T>C g.20165033T>C RPS6KA3 N544D - RPS6KA3_000037 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamL60 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 3 Johan den Dunnen
+?/. - c.1630A>T r.(?) p.(Asn544Tyr) Unknown - likely pathogenic g.20183151T>A g.20165033T>A - - RPS6KA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1676T>A r.(=) p.(Ile559Asn) Parent #1 - pathogenic g.20183105A>T g.20164987A>T - - RPS6KA3_000008 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.1703dup r.(?) p.(Arg569Glufs*28) Parent #1 - pathogenic g.20183078dup g.20164960dup - - RPS6KA3_000005 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1742C>T r.(?) p.(Thr581Ile) Unknown - likely pathogenic g.20183039G>A g.20164921G>A - - RPS6KA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1765-1G>C r.spl? p.? Unknown - pathogenic g.20181159C>G g.20163041C>G - - RPS6KA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 17 c.1784A>G r.(?) p.(Tyr595Cys) Maternal (confirmed) ACMG likely pathogenic g.20181139T>C g.20163021T>C - - RPS6KA3_000061 - PubMed: Squeo 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1506 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - 1 Johan den Dunnen
+/. - c.1921_1922del r.(?) p.(Ser641TrpfsTer72) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2073C>T r.(?) p.(Asn691=) Unknown - likely benign g.20174254G>A - RPS6KA3(NM_004586.2):c.2073C>T (p.N691=) - RPS6KA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2095G>A r.(?) p.(Val699Ile) Unknown - likely pathogenic g.20174232C>T - - - RPS6KA3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.2135G>A r.(?) p.(Arg712His) Parent #1 - VUS g.20173604C>T g.20155486C>T - - RPS6KA3_000063 - PubMed: Ganapathy 2019 - rs1017565774 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-6023 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.2168G>A r.(?) p.(Arg723His) Unknown - likely benign g.20173571C>T g.20155453C>T RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2168G>A r.(?) p.(Arg723His) Unknown - likely benign g.20173571C>T g.20155453C>T RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2168G>A r.(?) p.(Arg723His) Unknown - benign g.20173571C>T g.20155453C>T RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A r.(?) p.(Arg723His) Unknown - VUS g.20173571C>T g.20155453C>T RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2168G>A r.(?) p.(Arg723His) Unknown - likely benign g.20173571C>T g.20155453C>T RPS6KA3(NM_004586.2):c.2168G>A (p.R723H, p.(Arg723His)), RPS6KA3(NM_004586.3):c.2168G>A (p.R723H) - RPS6KA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A r.(?) p.(Arg723His) Parent #1 - VUS g.20173571C>T g.20155453C>T R723H - RPS6KA3_000036 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2185C>A r.(?) p.(Arg729=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2185C>T r.(?) p.(Arg729Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
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