All variants in the BICC1 gene

Information The variants shown are described using the NM_001080512.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

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     
+/. 13i c.2794+?::[NM_033056.3:c.1590+?] r.1_2794::[NM_033056.3:r.1591_*758] p.? - pathogenic g.[(55930526_55930707)_(55930922_55930971)del;(55930922_55930971)_(60622315_60622496)inv;(60622051_60622100)_(60622315_60622496)dup] g.[(54170766_54170947)_(54171162_54171211)del;(54171162_54171211)_(58862555_58862736)inv;(58862291_58862340)_(58862555_58862736)dup] - - BICC1_000014 SV consisting in the inversion of 4.6Mb in chr10. The breakpoints are located between exons 13 and 14 of PCDH15 on one end and between BICC1 and LINC00844 on the other end. PubMed: Vaché 2020, Journal: Vaché 2020 - - Germline yes - - - - David Baux
-?/. - c.191-19T>C r.(=) p.(=) - likely benign g.60380596T>C - BICC1(NM_001080512.3):c.191-19T>C - BICC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 c.259C>T r.(?) p.(Gln87*) - pathogenic g.60461855C>T g.58702095C>T - - BICC1_000001 not in 710 geographically-matched chromosomes - - - Unknown - - - - - Anne Grapin-Botton
?/. - c.307+13171T>G r.(=) p.(=) - VUS g.60475074T>G g.58715314T>G - - BICC1_000003 - - - - Germline - - - - - Yu Sun
?/. - c.307+13171T>G r.(=) p.(=) - VUS g.60475074T>G g.58715314T>G - - BICC1_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.637A>G r.(?) p.(Ile213Val) - likely benign g.60549058A>G g.58789298A>G BICC1(NM_001080512.1):c.637A>G (p.(Ile213Val)), BICC1(NM_001080512.3):c.637A>G (p.I213V) - BICC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.637A>G r.(?) p.(Ile213Val) - likely benign g.60549058A>G - BICC1(NM_001080512.1):c.637A>G (p.(Ile213Val)), BICC1(NM_001080512.3):c.637A>G (p.I213V) - BICC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.796-14C>A r.(=) p.(=) - likely benign g.60549428C>A - BICC1(NM_001080512.3):c.796-14C>A - BICC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.974A>G r.(?) p.(Asn325Ser) - likely benign g.60549620A>G - BICC1(NM_001080512.3):c.974A>G (p.N325S) - BICC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.993C>T r.(?) p.(Thr331=) - likely benign g.60549639C>T - BICC1(NM_001080512.3):c.993C>T (p.T331=) - BICC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1052G>A r.(?) p.(Cys351Tyr) - VUS g.60553248G>A g.58793488G>A - - BICC1_000012 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.1061T>C r.(?) p.(Leu354Pro) - VUS g.60553257T>C - BICC1(NM_001080512.1):c.1061T>C (p.(Leu354Pro)) - BICC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1065G>A r.(?) p.(Val355=) - likely benign g.60553261G>A - BICC1(NM_001080512.3):c.1065G>A (p.V355=) - BICC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1105del r.(?) p.(Gln369Asnfs*6) - VUS g.60553301del - BICC1(NM_001080512.3):c.1105delC (p.Q369Nfs*6) - BICC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1155A>G r.(?) p.(Lys385=) - likely benign g.60553351A>G - BICC1(NM_001080512.3):c.1155A>G (p.K385=) - BICC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1181C>G r.(?) p.(Ser394Cys) - VUS g.60556101C>G - BICC1(NM_001080512.3):c.1181C>G (p.S394C) - BICC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1305C>T r.(?) p.(Ala435=) - likely benign g.60556225C>T - BICC1(NM_001080512.3):c.1305C>T (p.A435=) - BICC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1366+4T>C r.spl? p.? - benign g.60556290T>C g.58796530T>C BICC1(NM_001080512.3):c.1366+4T>C - BICC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1366+4T>C r.spl? p.? - benign g.60556290T>C - BICC1(NM_001080512.3):c.1366+4T>C - BICC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1719T>G r.(?) p.(His573Gln) ACMG VUS g.60559006T>G g.58799246T>G - - BICC1_000011 - - - - Germline - - - - - Andreas Laner
+?/. - c.1894C>T r.(?) p.(Arg632*) - likely pathogenic g.60560685C>T - BICC1(NM_001080512.3):c.1894C>T (p.R632*) - BICC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1997C>T r.(?) p.(Thr666Met) - VUS g.60560788C>T g.58801028C>T - - BICC1_000016 - PubMed: Regalado 2011 - - Germline - - - - - Johan den Dunnen
-?/. - c.2016-19C>T r.(=) p.(=) - likely benign g.60562818C>T - BICC1(NM_001080512.3):c.2016-19C>T - BICC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2016-8T>C r.(=) p.(=) - benign g.60562829T>C - BICC1(NM_001080512.3):c.2016-8T>C - BICC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2046A>T r.(?) p.(Glu682Asp) - benign g.60562867A>T g.58803107A>T BICC1(NM_001080512.3):c.2046A>T (p.E682D) - BICC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2132A>C r.(?) p.(Asn711Thr) - benign g.60562953A>C g.58803193A>C BICC1(NM_001080512.3):c.2132A>C (p.N711T) - BICC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2181+15A>T r.(=) p.(=) - likely benign g.60563017A>T - BICC1(NM_001080512.3):c.2181+15A>T - BICC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.2264C>G r.(?) p.(Thr755Arg) - VUS g.60566806C>G g.58807046C>G - - BICC1_000013 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.2399G>A r.(?) p.(Arg800Gln) - likely benign g.60573612G>A - BICC1(NM_001080512.3):c.2399G>A (p.R800Q) - BICC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2456G>A r.(?) p.(Arg819Gln) - likely benign g.60573669G>A - BICC1(NM_001080512.3):c.2456G>A (p.R819Q) - BICC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2462G>A r.(?) p.(Gly821Glu) - benign g.60573675G>A g.58813915G>A BICC1(NM_001080512.3):c.2462G>A (p.G821E) - BICC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2608A>G r.(?) p.(Asn870Asp) - benign g.60577396A>G g.58817636A>G BICC1(NM_001080512.3):c.2608A>G (p.N870D) - BICC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 21 c.2795A>G r.(?) p.(Glu932Gly) - VUS g.60588521A>G g.58828761A>G - - BICC1_000002 absent from 710 geographically-matched control chromosomes - - - Unknown - - - - - Anne Grapin-Botton
-?/. - c.2828C>T r.(?) p.(Ser943Leu) - likely benign g.60588554C>T - BICC1(NM_001080512.3):c.2828C>T (p.S943L) - BICC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2834A>G r.(?) p.(Asn945Ser) - benign g.60588560A>G g.58828800A>G BICC1(NM_001080512.3):c.2834A>G (p.N945S) - BICC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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