Unique variants in the SPECC1L gene

Information The variants shown are described using the NM_015330.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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 14i c.(3088-15497_3088-9538)::? r.0 p.0 - pathogenic (dominant) g.(24792059_24798018)_qterdelins[NC_000001.10:(151446793_151485910)_qter] - hg18 g.(23122059_23128018)::(149713417_149752534) 46,XX,t(1;22)(q21;q12) SPECC1L_000005 RNA haploinsufficiency lymphoblastoid cells PubMed: Saadi 2011, Journal: Saadi 2011 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.160A>G r.(?) p.(Ser54Gly) - VUS g.24709287A>G - SPECC1L(NM_015330.4):c.160A>G (p.S54G) - SPECC1L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.200C>T r.(?) p.(Thr67Met) - likely benign g.24709327C>T g.24313359C>T SPECC1L(NM_015330.4):c.200C>T (p.(Thr67Met)) - SPECC1L-ADORA2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 3 - c.293C>T r.(?) p.(Ser98Phe) - benign, likely benign, VUS g.24709420C>T g.24313452C>T 1 more item - SPECC1L-ADORA2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.307+5C>T r.spl? p.? - likely benign g.24709439C>T - SPECC1L(NM_015330.6):c.307+5C>T - SPECC1L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 4i c.308-1G>A r.spl p.? - likely pathogenic g.24717255G>A g.24321287G>A - - SPECC1L_000006 de novo in patient; reported not associated with phenotype PubMed: Rutsch 2015, Journal: Rutsch 2015 - - De novo - - - - - Johan den Dunnen
-?/. 2 - c.496A>G r.(?) p.(Met166Val) - likely benign g.24717444A>G g.24321476A>G SPECC1L(NM_015330.4):c.496A>G (p.M166V), SPECC1L(NM_015330.6):c.496A>G (p.M166V) - SPECC1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 2 - c.562C>T r.(?) p.(Leu188Phe) - likely benign g.24717510C>T g.24321542C>T SPECC1L(NM_001145468.2):c.562C>T (p.(Leu188Phe)) - SPECC1L-ADORA2A_000003 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs56168869 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-?/. 2 5 c.569C>T r.(?) p.(Thr190Met) - likely benign g.24717517C>T g.24321549C>T SPECC1L(NM_015330.6):c.569C>T (p.T190M) - SPECC1L_000004 carrier mother so variant not disease associated, VKGL data sharing initiative Nederland PubMed: Saadi 2011, Journal: Saadi 2011 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
-/. 2 - c.570G>A r.(?) p.(Thr190=) - benign g.24717518G>A g.24321550G>A 1 more item - SPECC1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.689C>T r.(?) p.(Thr230Ile) - likely benign g.24717637C>T g.24321669C>T SPECC1L(NM_001145468.2):c.689C>T (p.(Thr230Ile)) - SPECC1L-ADORA2A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.902A>G r.(?) p.(Asp301Gly) - benign g.24717850A>G g.24321882= SPECC1L(NM_015330.6):c.902A>G (p.D301G), SPECC1L-ADORA2A(NR_103546.1):n.1210A>G - SPECC1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1112C>T r.(?) p.(Ser371Leu) - likely benign g.24718060C>T g.24322092C>T SPECC1L(NM_001145468.2):c.1112C>T (p.(Ser371Leu)) - SPECC1L-ADORA2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 5 c.1189A>C r.(?) p.(Thr397Pro) - pathogenic g.24718137A>C g.24322169A>C - - SPECC1L_000001 - PubMed: Kruszka 2015, Journal: Kruszka 2015 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1234G>C r.(?) p.(Glu412Gln) - likely pathogenic g.24718182G>C - - - SPECC1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1240C>A r.(?) p.(Leu414Ile) - likely pathogenic g.24718188C>A g.24322220C>A SPECC1L(NM_015330.4):c.1240C>A (p.L414I) - SPECC1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 5 c.1240C>T r.(?) p.(Leu414Phe) ACMG likely pathogenic (dominant) g.24718188C>T g.24322220C>T - - SPECC1L_000026 - - - - De novo - - - - - Maria Elena García Paya
+/. 1 5 c.1244A>C r.(?) p.(Gln415Pro) - pathogenic g.24718192A>C g.24322224A>C - - SPECC1L_000003 not in 616 control chromosomes PubMed: Saadi 2011, Journal: Saadi 2011, OMIM:var0001 - rs387907108 De novo yes - - - - Johan den Dunnen
+?/. 1 - c.1303A>G r.(?) p.(Asn435Asp) - likely pathogenic g.24718251A>G g.24322283A>G - - SPECC1L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1359C>T r.(?) p.(Ser453=) - likely benign g.24718307C>T - SPECC1L(NM_015330.4):c.1359C>T (p.S453=) - SPECC1L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1460G>A r.(?) p.(Arg487His) - benign, likely benign g.24718408G>A - SPECC1L(NM_015330.4):c.1460G>A (p.(Arg487His)), SPECC1L(NM_015330.6):c.1460G>A (p.R487H) - SPECC1L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 1 - c.1781A>G r.(?) p.(Tyr594Cys) - VUS g.24718729A>G - SPECC1L(NM_015330.6):c.1781A>G (p.Y594C) - SPECC1L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1849G>C r.(?) p.(Glu617Gln) - VUS g.24718797G>C g.24322829G>C SPECC1L(NM_001145468.2):c.1849G>C (p.(Glu617Gln)) - SPECC1L-ADORA2A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.2003C>T r.(?) p.(Thr668Met) - likely benign, VUS g.24720252C>T g.24324284C>T SPECC1L(NM_001145468.2):c.2003C>T (p.(Thr668Met)), SPECC1L(NM_015330.6):c.2003C>T (p.T668M) - SPECC1L-ADORA2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 1 - c.2560+46C>T r.(=) p.(=) - benign g.24730587C>T - SPECC1L(NM_015330.4):c.2560+46C>T - SPECC1L_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2674A>G r.(?) p.(Ile892Val) - likely benign g.24743075A>G g.24347107A>G SPECC1L(NM_001145468.2):c.2674A>G (p.(Ile892Val)) - SPECC1L-ADORA2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2744-3379A>G r.(=) p.(=) - benign g.24755850A>G - SPECC1L(NM_015330.4):c.2744-3379A>G - SPECC1L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2801C>T r.(?) p.(Ala934Val) - likely benign g.24759286C>T - SPECC1L(NM_015330.6):c.2801C>T (p.A934V) - SPECC1L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2851= r.(=) p.(Met951=) - benign g.24761467G>A g.24365499G>A SPECC1L(NM_015330.6):c.2851G>A (p.V951M), SPECC1L-ADORA2A(NR_103546.1):n.3281G>A - SPECC1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2882C>T r.(?) p.(Ala961Val) - likely benign g.24761498C>T g.24365530C>T SPECC1L(NM_001145468.2):c.2882C>T (p.(Ala961Val)) - SPECC1L-ADORA2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3017C>T r.(?) p.(Ala1006Val) - VUS g.24765218C>T - SPECC1L(NM_015330.4):c.3017C>T (p.A1006V) - SPECC1L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3051G>A r.(?) p.(Leu1017=) - likely benign g.24765252G>A g.24369284G>A SPECC1L(NM_015330.4):c.3051G>A (p.L1017=) - SPECC1L-ADORA2A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3187C>A r.(?) p.(Leu1063Met) - VUS g.24807655C>A - - - SPECC1L_000025 - - - - CLASSIFICATION record - - - - - MobiDetails
-/. 1 - c.3205-181G>A r.(=) p.(=) - benign g.24808435G>A - SPECC1L(NM_015330.4):c.3205-181G>A - SPECC1L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.3247G>A r.(?) p.(Gly1083Ser) - pathogenic g.24808658G>A g.24412690G>A - - SPECC1L_000002 - PubMed: Kruszka 2015, Journal: Kruszka 2015 - - Germline yes 1/19 cases - - - Johan den Dunnen
+?/. 1 - c.3252C>G r.(?) p.(Ile1084Met) - likely pathogenic g.24808663C>G g.24412695C>G - - SPECC1L-ADORA2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*1076G>A r.(=) p.(=) - benign g.24811667G>A - SPECC1L(NM_015330.4):c.*1076G>A - SPECC1L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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