Unique variants in the AFG3L2 gene

Information The variants shown are described using the NM_006796.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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     
-/. 2 1 c.-96G>C r.(?) p.(=) - benign g.12377177C>G g.12377178C>G AFG3L2(NM_006796.2):c.-96G>C - AFG3L2_000001 VKGL data sharing initiative Nederland PubMed: Di Bella 2010 - rs12327346 CLASSIFICATION record, Germline - 8/300 - - - Jacopo Celli, VKGL-NL_Utrecht
-/. 1 - c.-71C>T r.(?) p.(=) - benign g.12377152G>A g.12377153G>A AFG3L2(NM_006796.2):c.-71C>T - AFG3L2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-52G>A r.(?) p.(=) - benign g.12377133C>T g.12377134C>T AFG3L2(NM_006796.2):c.-52G>A - AFG3L2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.31C>T r.(?) p.(Arg11Trp) - likely benign g.12377051G>A g.12377052G>A AFG3L2(NM_006796.2):c.31C>T (p.(Arg11Trp)) - AFG3L2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.46C>T r.(?) p.(Pro16Ser) - VUS g.12377036G>A g.12377037G>A AFG3L2(NM_006796.2):c.46C>T (p.P16S) - AFG3L2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.82G>A r.(?) p.(Val28Met) - likely benign g.12377000C>T g.12377001C>T AFG3L2(NM_006796.2):c.82G>A (p.V28M) - AFG3L2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.214+158T>C r.(=) p.(=) - likely benign g.12371433A>G g.12371434A>G AFG3L2(NM_006796.2):c.214+158T>C - AFG3L2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.215-13C>T r.(=) p.(=) - benign g.12370938G>A g.12370939G>A AFG3L2(NM_006796.2):c.215-13C>T - AFG3L2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.215-5A>C r.spl? p.? - benign g.12370930T>G g.12370931T>G AFG3L2(NM_006796.2):c.215-5A>C - AFG3L2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 3i c.293-61A>G r.(?) p.(=) - likely benign g.12367442T>C g.12367443T>C - - AFG3L2_000002 - PubMed: Di Bella 2010 - rs8093375 Germline - - - - - Jacopo Celli
-?/. 1 - c.293-14_293-13del r.(=) p.(=) - likely benign g.12367395_12367396del g.12367396_12367397del AFG3L2(NM_006796.2):c.293-14_293-13delTT - AFG3L2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.378C>G r.(?) p.(His126Gln) - VUS g.12367296G>C g.12367297G>C - - AFG3L2_000021 - PubMed: Di Bella 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 4i c.400-14C>G r.(?) p.(=) - likely benign g.12367130G>C g.12367131G>C - - AFG3L2_000004 - PubMed: Di Bella 2010 - - Germline - 2/300 - - - Jacopo Celli
?/. 1 - c.443T>A r.(?) p.(Leu148His) - VUS g.12367073A>T - AFG3L2(NM_006796.2):c.443T>A (p.L148H) - AFG3L2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 5i c.553-95G>A r.(?) p.(=) - likely benign g.12363950C>T g.12363951C>T 400-95G>A - AFG3L2_000003 - PubMed: Di Bella 2010 - rs2298542 Germline - - - - - Jacopo Celli
-?/. 1 - c.581G>A r.(?) p.(Arg194His) - likely benign g.12363827C>T g.12363828C>T AFG3L2(NM_006796.2):c.581G>A (p.(Arg194His)) - AFG3L2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.670C>T r.(?) p.(Arg224Trp) - VUS g.12360008G>A g.12360009G>A - - AFG3L2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 7i c.752+6C>T r.(=), r.(?) p.(=) - benign g.12359920G>A g.12359921G>A AFG3L2(NM_006796.2):c.752+6C>T - AFG3L2_000005 VKGL data sharing initiative Nederland PubMed: Di Bella 2010 - rs8097342 CLASSIFICATION record, Germline - 245/300 - - - Jacopo Celli, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 7i c.753-55T>C r.(?) p.(=) - likely benign g.12358997A>G g.12358998A>G - - AFG3L2_000006 - PubMed: Di Bella 2010 - rs7407640 Germline - - - - - Jacopo Celli
?/. 1 - c.838C>T r.(?) p.(Arg280Trp) - VUS g.12358857G>A g.12358858G>A AFG3L2(NM_006796.2):c.838C>T (p.R280W) - AFG3L2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.874G>A r.(?) p.(Gly292Arg) - VUS g.12358821C>T g.12358822C>T - - AFG3L2_000066 - PubMed: Ganapathy 2019 - rs532179680 Germline - - - - - Johan den Dunnen
+/. 1 - c.1026+1G>A r.spl? p.? - pathogenic g.12358668C>T g.12358669C>T AFG3L2(NM_006796.2):c.1026+1G>A - AFG3L2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 5 8i c.1026+8G>A r.(=), r.(?) p.(=) - benign, likely benign g.12358661C>T g.12358662C>T AFG3L2(NM_006796.2):c.1026+8G>A - AFG3L2_000007 37 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Di Bella 2010, PubMed: Narang 2020, Journal: Narang 2020 - rs8091858 CLASSIFICATION record, Germline - 18/300, 37/2795 individuals - - - Jacopo Celli, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.1064C>T r.(?) p.(Thr355Met) ACMG VUS g.12356793G>A - - - AFG3L2_000064 ACMG grading PM2,PP2,PP3,PP5 - - - Germline - - - - - Andreas Laner
-?/. 1 9i c.1165-21T>A r.(?) p.(=) - likely benign g.12353178A>T g.12353179A>T - - AFG3L2_000008 - PubMed: Di Bella 2010 - rs9966470 Germline - - - - - Jacopo Celli
+?/. 1 - c.1277A>T r.(?) p.(Glu426Val) - likely pathogenic g.12353045T>A - - - AFG3L2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1284G>T r.(?) p.(Glu428Asp) - VUS g.12353038C>A - AFG3L2(NM_006796.2):c.1284G>T (p.E428D) - AFG3L2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 10 c.1295A>C r.(?) p.(Asn432Thr) - pathogenic g.12353027T>G g.12353028T>G 1296A>C - AFG3L2_000017 - PubMed: Di Bella 2010, OMIM:var0005 - - Germline - - - - - Jacopo Celli
-?/. 1 10i c.1319-59G>T r.(?) p.(=) - likely benign g.12351471C>A g.12351472C>A - - AFG3L2_000009 - PubMed: Di Bella 2010 - - Germline - 1/300 - - - Jacopo Celli
-?/. 1 10i c.1319-55T>G r.(?) p.(=) - likely benign g.12351467A>C g.12351468A>C - - AFG3L2_000010 - PubMed: Di Bella 2010 - - Germline - 3/300 - - - Jacopo Celli
-?/. 1 - c.1319-10T>C r.(=) p.(=) - likely benign g.12351422A>G g.12351423A>G AFG3L2(NM_006796.2):c.1319-10T>C - AFG3L2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1319-7C>G r.(=) p.(=) - likely benign g.12351419G>C g.12351420G>C AFG3L2(NM_006796.2):c.1319-7C>G - AFG3L2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 11 c.1389A>G r.(?) p.(=) - benign g.12351342T>C g.12351343T>C 1389G>A, L463L - AFG3L2_000011 1 more item PubMed: Di Bella 2010 - rs11080572 Germline - 96/300 - - - Jacopo Celli
-/. 3 - c.1389G>A r.(?) p.(Leu463=) - benign g.12351342C>T g.12351343C>T AFG3L2(NM_006796.2):c.1389G>A (p.L463=) - AFG3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1629A>G r.(?) p.(Lys543=) - likely benign g.12348306T>C g.12348307T>C AFG3L2(NM_006796.2):c.1629A>G (p.K543=) - AFG3L2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1650A>G r.(?) p.(Glu550=) - benign g.12348285T>C g.12348286T>C AFG3L2(NM_006796.2):c.1650A>G (p.E550=) - AFG3L2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 13 c.1650G>A r.(?) p.(=) - benign g.12348285C>T g.12348286C>T E550E - AFG3L2_000012 1 more item PubMed: Di Bella 2010 - - Germline - 54/300 - - - Jacopo Celli
-/. 1 13i c.1664-39G>A r.(?) p.(=) - benign g.12344285C>T g.12344286C>T - - AFG3L2_000013 - PubMed: Di Bella 2010 - - Germline - 6/300 - - - Jacopo Celli
-/., -?/. 2 13i c.1664-9T>C r.(=), r.(?) p.(=) - benign, likely benign g.12344255A>G g.12344256A>G AFG3L2(NM_006796.2):c.1664-9T>C - AFG3L2_000014 VKGL data sharing initiative Nederland PubMed: Di Bella 2010 - - CLASSIFICATION record, Germline - 1/300 - - - Jacopo Celli, VKGL-NL_Rotterdam
?/. 2 - c.1861C>G r.(?) p.(Leu621Val) - VUS g.12340319G>C g.12340320G>C AFG3L2(NM_006796.2):c.1861C>G (p.L621V) - AFG3L2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1894C>G r.(?) p.(Arg632Gly) - VUS g.12340286G>C g.12340287G>C - - AFG3L2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1927dup r.(?) p.(Thr643AsnfsTer7) - likely benign g.12340253dup g.12340254dup AFG3L2(NM_006796.2):c.1927dupA (p.(Thr643AsnfsTer7)) - AFG3L2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1943A>G r.(?) p.(Asp648Gly) - VUS g.12340237T>C g.12340238T>C - - AFG3L2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1996A>G r.(?) p.(Met666Val) - likely pathogenic g.12337519T>C g.12337520T>C - - AFG3L2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1998G>A r.(?) p.(Met666Ile) - VUS g.12337517C>T g.12337518C>T - - AFG3L2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 16 c.2021_2022delinsTA r.(?) p.(Ser674Leu) - pathogenic g.12337493_12337494delinsTA g.12337494_12337495delinsTA 2021_2022CC>TA - AFG3L2_000018 - PubMed: Di Bella 2010, OMIM:var0002 - - Germline - - - - - Jacopo Celli
+?/. 2 - c.2062C>T r.(?) p.(Pro688Ser) - likely pathogenic g.12337453G>A g.12337454G>A - - AFG3L2_000062 - - - - Unknown - - - - - IMGAG
+/., -/. 2 16 c.2071G>A r.(?) p.(Glu691Lys) - benign, pathogenic g.12337444C>T g.12337445C>T - - AFG3L2_000016 VKGL data sharing initiative Nederland PubMed: Di Bella 2010, OMIM:var0001 - - CLASSIFICATION record, Germline - - - - - Jacopo Celli, VKGL-NL_Nijmegen
+/. 1 16 c.2081C>A r.(?) p.(Ala694Glu) - pathogenic g.12337434G>T g.12337435G>T A694E - AFG3L2_000019 - PubMed: Di Bella 2010, OMIM:var0003 - - Germline - - - - - Jacopo Celli
+/., +?/., -?/. 4 16 c.2105G>A r.(?) p.(Arg702Gln) - likely benign, likely pathogenic, pathogenic g.12337410C>T g.12337411C>T AFG3L2(NM_006796.2):c.2105G>A (p.R702Q), R702Q - AFG3L2_000020 VKGL data sharing initiative Nederland PubMed: Di Bella 2010, OMIM:var0004 - - CLASSIFICATION record, Germline - - - - - Jacopo Celli, VKGL-NL_VUmc
+?/., ?/. 2 - c.2167G>A r.(?) p.(Val723Met) - likely pathogenic, VUS g.12337348C>T g.12337349C>T - - AFG3L2_000060 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139469785 Germline, Unknown - 2/2795 individuals - - - IMGAG, Mohammed Faruq
-/. 2 - c.2175+18G>A r.(=) p.(=) - benign g.12337322C>T g.12337323C>T AFG3L2(NM_006796.2):c.2175+18G>A - AFG3L2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2206T>C r.(?) p.(Leu736=) - likely benign g.12329752A>G g.12329753A>G AFG3L2(NM_006796.2):c.2206T>C (p.L736=) - AFG3L2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2294G>T r.(?) p.(Ser765Ile) - VUS g.12329664C>A g.12329665C>A - - AFG3L2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2314C>A r.(?) p.(Leu772Ile) - VUS g.12329644G>T g.12329645G>T AFG3L2(NM_006796.2):c.2314C>A (p.L772I) - AFG3L2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 4 17 c.2314C>T r.(?) p.(Leu772Phe) - likely benign, VUS g.12329644G>A g.12329645G>A AFG3L2(NM_006796.2):c.2314C>T (p.L772F) - AFG3L2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Erik-Jan Kamsteeg, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.2336G>A r.(?) p.(Trp779Ter) - VUS g.12329622C>T g.12329623C>T - - AFG3L2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2344G>C r.(?) p.(Glu782Gln) - VUS g.12329614C>G g.12329615C>G AFG3L2(NM_006796.2):c.2344G>C (p.E782Q) - AFG3L2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2359A>G r.(?) p.(Lys787Glu) - likely benign g.12329599T>C g.12329600T>C AFG3L2(NM_006796.2):c.2359A>G (p.K787E) - AFG3L2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2372C>T r.(?) p.(Pro791Leu) - likely benign g.12329586G>A g.12329587G>A AFG3L2(NM_006796.2):c.2372C>T (p.P791L) - AFG3L2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 17 c.2394G>C r.(?) p.(*798Tyr*32), p.(*798Tyrext*32) - likely benign, VUS g.12329564C>G g.12329565C>G AFG3L2(NM_006796.2):c.2394G>C (p.*798Yext*32) - AFG3L2_000015 VKGL data sharing initiative Nederland PubMed: Di Bella 2010 - rs1129115 CLASSIFICATION record, Germline - - - - - Jacopo Celli, VKGL-NL_Rotterdam
-/. 1 - c.*28G>C r.(=) p.(=) - benign g.12329536C>G g.12329537C>G AFG3L2(NM_006796.2):c.*28G>C - AFG3L2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3964G>A r.(=) p.(=) - likely benign g.12325600C>T g.12325601C>T TUBB6(NM_032525.1):c.812C>T (p.(Ala271Val)) - AFG3L2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4123G>C r.(=) p.(=) - VUS g.12325441C>G g.12325442C>G TUBB6(NM_001303530.2):c.215C>G (p.T72R) - TUBB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*21246C>A r.(=) p.(=) - likely benign g.12308318G>T g.12308319G>T TUBB6(NM_032525.2):c.27G>T (p.A9=) - AFG3L2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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