Full data view for gene SMN2

Information The variants shown are described using the NM_017411.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/. _1_9_ c.-163_*580{0} r.0 p.0 Both (homozygous) - likely benign g.(?_69345350)_(69373422_?)del g.(?_70049523)_(70077595_?)del del SMN2 - SMN2_000005 - PubMed: Sharifi 2021 - - Germline - 3/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 3 Johan den Dunnen
+/. _1_9_ c.-163_*580{0} r.0 p.0 Parent #1 - likely benign g.(?_69345350)_(69373422_?)del g.(?_70049523)_(70077595_?)del del SMN2 - SMN2_000005 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Parent #1 - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 22/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 22 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Both (homozygous) - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Parent #1 - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Both (homozygous) - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 8/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 8 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Parent #1 - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 15/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 15 Johan den Dunnen
+/. - c.-163_*580[2] r.? p.? Parent #1 - benign (!) g.(?_69345350)_(69373422_?)dup - - - SMN2_000002 - PubMed: Prior 2009 - - Germline - - - - - DNA PCR, SEQ - - SMA Pat3 PubMed: Prior 2009 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.-163_*580[2] r.? p.? Unknown - benign (!) g.(?_69345350)_(69373422_?)dup - 3 copies SMN2 - SMN2_000002 - - - - Germline - - - - - DNA MLPA - - SMA2 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. _1_9_ c.-163_*580{0} r.0 p.0 Parent #1 - likely benign g.(?_69345350)_(69373422_?)del g.(?_70049523)_(70077595_?)del del SMN2 - SMN2_000005 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Parent #1 - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 19/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 19 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Both (homozygous) - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 - SMN2_000002 - PubMed: Sharifi 2021 - - Germline - 5/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 5 Johan den Dunnen
-?/. - c.-163_*580{2} r.? p.? Parent #1 - likely benign g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup NM_017411.3:SMN2 3 copies - SMN2_000002 - PubMed: Cerino 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - gene panel MYOP P71/Myo138 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Both (homozygous) - benign (!) g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup dup SMN2 gene - SMN2_000002 variant compensates SMN1 del ex7 PubMed: Reiner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*580{2} r.(=) p.(=) Both (homozygous) - benign (!) g.(?_69345350)_(69373422_?)dup g.(?_70049523)_(70077595_?)dup - - SMN2_000002 variant compensates SMN1 del ex7 PubMed: Reiner 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #2 - pathogenic g.179407482G>A g.178542755G>A - - TTN_001020 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat281 PubMed: Xie 2024 patient F - China - - - - not treated 1 Johan den Dunnen
-/. - c.462A>G r.(?) p.(Gln154=) Unknown - benign g.69362949A>G g.70067122A>G SMN2(NM_017411.4):c.462A>G (p.Q154=) - SMN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _7i_8i_ c.(?_835-1)_(*3+1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_69372347)_(69372402_?)del - - - SMN2_000004 - PubMed: Prior 2009 - - Germline - - - - - DNA PCR, SEQ - - SMA Pat2 PubMed: Prior 2009 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.859G>C r.859g>c p.Gly287Arg Unknown - NA g.69372372G>C g.70076545G>C - - SMN2_000003 expression cloning mini-gene splicing construct shows significant increase exon 7 inclusion (from 0.50 to 0.70) PubMed: Prior 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.859G>C r.(859g>c) p.(Gly287Arg) Both (homozygous) - benign (!) g.69372372G>C g.70076545G>C PCR deleted - SMN2_000003 detected as deleted by PCR; predicted splice enhancer PubMed: Prior 2009 - - Germline - - - - - DNA PCRq, SEQ - - SMA Pat1 PubMed: Prior 2009 - F no United States - - - - - 1 Johan den Dunnen
+/. - c.859G>C r.(?) p.(Gly287Arg) Parent #1 - benign (!) g.69372372G>C g.70076545G>C - - SMN2_000003 - PubMed: Prior 2009 - - Germline - - - - - DNA PCR, SEQ - - SMA Pat2 PubMed: Prior 2009 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.859G>C r.(?) p.(Gly287Arg) Unknown - benign (!) g.69372372G>C g.70076545G>C - - SMN2_000003 - PubMed: Prior 2009 - - Germline - - - - - DNA PCR, SEQ - - SMA Pat3 PubMed: Prior 2009 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.859G>C r.(?) p.(Gly287Arg) Unknown - likely benign g.69372372G>C g.70076545G>C 892g>c - SMN2_000003 - PubMed: Velasco 1996 - - Germline - - - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Velasco 1996 unaffected carrier F - Spain - - - - - 1 Johan den Dunnen
-?/. - c.859G>C r.(?) p.(Gly287Arg) Unknown - likely benign g.69372372G>C - SMN2(NM_017411.4):c.859G>C (p.(Gly287Arg)) - SMN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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