All variants in the BRAT1 gene

Information The variants shown are described using the NM_152743.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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     
-/. - c.128-10A>G r.(=) p.(=) - benign g.2587122T>C g.2547488T>C BRAT1(NM_152743.4):c.128-10A>G - BRAT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.128-10A>G r.(=) p.(=) - benign g.2587122T>C g.2547488T>C BRAT1(NM_152743.4):c.128-10A>G - BRAT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.189G>A r.(?) p.(Leu63=) - likely benign g.2587051C>T - BRAT1(NM_001350626.1):c.189G>A (p.L63=) - BRAT1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.282+9G>A r.(=) p.(=) - likely benign g.2586949C>T - BRAT1(NM_001350626.1):c.282+9G>A - BRAT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.283-2A>T r.spl? p.? - VUS g.2584692T>A - BRAT1(NM_001350626.1):c.283-2A>T - BRAT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.345C>T r.(?) p.(Ala115=) - likely benign g.2584628G>A g.2544994G>A BRAT1(NM_001350626.1):c.345C>T (p.A115=) - BRAT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.355G>A r.(?) p.(Val119Met) - VUS g.2584618C>T g.2544984C>T BRAT1(NM_001350626.2):c.355G>A (p.V119M) - BRAT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.431G>A r.(?) p.(Gly144Asp) - likely benign g.2583596C>T g.2543962C>T BRAT1(NM_152743.3):c.431G>A (p.(Gly144Asp)) - BRAT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.560C>G r.(?) p.(Pro187Arg) - VUS g.2583467G>C g.2543833G>C BRAT1(NM_152743.3):c.560C>G (p.(Pro187Arg)) - BRAT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.576C>T r.(?) p.(Pro192=) - likely benign g.2583451G>A - BRAT1(NM_152743.4):c.576C>T (p.P192=) - BRAT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.638dup r.(?) p.(Val214GlyfsTer189) - pathogenic g.2583390dup g.2543756dup BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 5 c.638dup r.(?) p.(Val214Glyfs*189) - pathogenic g.2583390dup g.2543756dup 638dupA - BRAT1_000015 - - - rs730880324 Germline yes - - 0 - Enza Maria Valente
+/. 5 c.638dup r.(?) p.(Val214Glyfs*189) - pathogenic g.2583390dup g.2543756dup 638dupA - BRAT1_000015 - - - - Germline yes - - 0 - Enza Maria Valente
+/. - c.638dup r.(?) p.(Val214Glyfs*189) - pathogenic g.2583390dup g.2543756dup - - BRAT1_000015 - PubMed: Papuc 2019 - - Germline - - - 0 - Anaïs Begemann
+/. - c.638dup r.(?) p.(Val214GlyfsTer189) - pathogenic g.2583390dup g.2543756dup BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189) - likely pathogenic g.2583390dup - BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.638dup r.(?) p.(Val214Glyfs*189) - pathogenic g.2583390dup - 638dupA - BRAT1_000010 - - - - Germline yes - - 0 - Sara Nuovo
+?/. - c.638dup r.(?) p.(Val214GlyfsTer189) - likely pathogenic g.2583390dup g.2543756dup 638_639insA - BRAT1_000010 - PubMed: Srivastava 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.638dup r.(?) p.(Val214GlyfsTer189) - pathogenic g.2583390dup - BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189) - BRAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - LOVD
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - LOVD
+?/. - c.638_639insA r.(?) p.(Val214GlyfsTer189) - likely pathogenic g.2583390dup g.2543756dup BRAT1 c.638_639insA - BRAT1_000010 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 0.50% (2/402) - 0 - LOVD
-/. - c.675C>T r.(?) p.(Phe225=) - benign g.2583352G>A g.2543718G>A BRAT1(NM_001350626.2):c.675C>T (p.F225=) - BRAT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.762C>T r.(?) p.(Pro254=) - likely benign g.2583265G>A - BRAT1(NM_001350626.2):c.762C>T (p.P254=) - BRAT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.803+1G>C r.spl p.? - likely pathogenic g.2583223C>G g.2543589C>G - - BRAT1_000045 - PubMed: Srivastava 2014 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.804-17C>A r.(=) p.(=) - likely benign g.2582974G>T - BRAT1(NM_001350626.2):c.804-17C>A - BRAT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.825C>T r.(?) p.(Ser275=) - likely benign g.2582936G>A g.2543302G>A BRAT1(NM_001350626.2):c.825C>T (p.S275=) - BRAT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.852G>A r.(?) p.(Ala284=) - likely benign g.2582909C>T - BRAT1(NM_001350626.1):c.852G>A (p.A284=) - BRAT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.866G>C r.(?) p.(Cys289Ser) - likely benign g.2582895C>G g.2543261C>G BRAT1(NM_152743.3):c.866G>C (p.(Cys289Ser)) - BRAT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.883A>G r.(?) p.(Met295Val) - likely benign g.2582878T>C g.2543244T>C BRAT1(NM_152743.3):c.883A>G (p.(Met295Val)) - BRAT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.962T>G r.(?) p.(Leu321Arg) - likely benign g.2581807A>C g.2542173A>C BRAT1(NM_152743.3):c.962T>G (p.(Leu321Arg)) - BRAT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.962T>G r.(?) p.(Leu321Arg) - likely benign g.2581807A>C g.2542173A>C - - BRAT1_000029 32 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150942467 Germline - 32/2769 individuals - 0 - Mohammed Faruq
-?/. - c.962T>G r.(?) p.(Leu321Arg) - likely benign g.2581807A>C g.2542173A>C - - BRAT1_000029 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150942467 Germline - 1/2769 individuals - 0 - Mohammed Faruq
-?/. - c.1134+14G>A r.(=) p.(=) - likely benign g.2581338C>T g.2541704C>T BRAT1(NM_152743.4):c.1134+14G>A - BRAT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1158C>T r.(?) p.(Pro386=) - likely benign g.2581095G>A - BRAT1(NM_001350626.2):c.1158C>T (p.P386=) - BRAT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1280G>A r.(?) p.(Arg427Gln) - VUS g.2580973C>T g.2541339C>T BRAT1(NM_152743.3):c.1280G>A (p.R427Q) - BRAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1313_1314del r.(?) p.(Gln438ArgfsTer51) - pathogenic g.2580939_2580940del g.2541305_2541306del BRAT1(NM_152743.4):c.1313_1314delAG (p.Q438Rfs*51) - BRAT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 10 c.1395G>A r.(1323_1396del) p.(Pro442Serfs*23) - pathogenic g.2580613C>T g.2540979C>T - - BRAT1_000016 - - - - Germline yes - - 0 - Enza Maria Valente
+/. 10 c.1395G>A r.(1323_1396del) p.(Pro442Serfs*23) - pathogenic g.2580613C>T g.2540979C>T - - BRAT1_000016 - - - rs201855243 Germline yes - - 0 - Enza Maria Valente
+?/. - c.1395G>A r.spl? p.? ACMG likely pathogenic g.2580613C>T - - - BRAT1_000016 - - - - Germline yes - - 0 - Sara Nuovo
?/. - c.1395+4C>T r.spl? p.? - VUS g.2580609G>A g.2540975G>A BRAT1(NM_152743.3):c.1395+4C>T (p.?) - BRAT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1423C>T r.(?) p.(Leu475Phe) - VUS g.2579495G>A g.2539861G>A BRAT1(NM_152743.3):c.1423C>T (p.(Leu475Phe)) - BRAT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.1446del r.(?) p.(Lys483Argfs*34) - pathogenic g.2579474del - - - BRAT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1455C>T r.(?) p.(Pro485=) - likely benign g.2579463G>A g.2539829G>A BRAT1(NM_152743.3):c.1455C>T (p.P485=) - BRAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1550G>A r.(?) p.(Arg517Lys) - VUS g.2579225C>T g.2539591C>T BRAT1(NM_152743.3):c.1550G>A (p.(Arg517Lys)) - BRAT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1659C>T r.(?) p.(Leu553=) - likely benign g.2578924G>A g.2539290G>A BRAT1(NM_001350626.2):c.1659C>T (p.L553=) - BRAT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1668C>T r.(?) p.(Asp556=) - likely benign g.2578915G>A - BRAT1(NM_001350626.1):c.1668C>T (p.D556=) - BRAT1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1726G>A r.(?) p.(Gly576Ser) - benign g.2578857C>T g.2539223C>T - - BRAT1_000034 42 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61740320 Germline - 42/2793 individuals - 0 - Mohammed Faruq
-/. - c.1726G>A r.(?) p.(Gly576Ser) - benign g.2578857C>T g.2539223C>T - - BRAT1_000034 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61740320 Germline - 1/2793 individuals - 0 - Mohammed Faruq
?/. - c.1736C>T r.(?) p.(Ala579Val) - VUS g.2578847G>A g.2539213G>A BRAT1(NM_152743.3):c.1736C>T (p.(Ala579Val)) - BRAT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.1771-170_1771-169del r.(=) p.(=) - pathogenic g.2578567_2578568del - BRAT1(NM_001350626.1):c.1781_1782delTG (p.L594Qfs*22) - BRAT1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1862G>A r.(?) p.(Arg621Gln) - likely benign g.2578307C>T - BRAT1(NM_001350626.2):c.2042G>A (p.R681Q) - BRAT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1913_1914del r.(?) p.(Val638Alafs*64) - likely pathogenic g.2578257_2578258del - BRAT1(NM_001350626.1):c.2093_2094delTG (p.V698Afs*64) - BRAT1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1922C>T r.(?) p.(Ala641Val) - VUS g.2578247G>A g.2538613G>A BRAT1(NM_001350626.1):c.2102C>T (p.A701V), BRAT1(NM_152743.3):c.1922C>T (p.(Ala641Val)) - BRAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1922C>T r.(?) p.(Ala641Val) - likely benign g.2578247G>A - BRAT1(NM_001350626.1):c.2102C>T (p.A701V), BRAT1(NM_152743.3):c.1922C>T (p.(Ala641Val)) - BRAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1932A>G r.(?) p.(Arg644=) - benign g.2578237T>C g.2538603T>C BRAT1(NM_152743.4):c.1932A>G (p.R644=) - BRAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1932A>G r.(?) p.(Arg644=) - benign g.2578237T>C g.2538603T>C BRAT1(NM_152743.4):c.1932A>G (p.R644=) - BRAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1972G>A r.(?) p.(Ala658Thr) - VUS g.2578197C>T - BRAT1(NM_152743.4):c.1972G>A (p.A658T) - BRAT1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2125_2128del r.(?) p.(Phe709Thrfs*17) - pathogenic g.2578044_2578047del g.2538410_2538413del - - BRAT1_000017 - PubMed: Papuc 2019 - - Germline - - - 0 - Anaïs Begemann
?/. - c.2147C>T r.(?) p.(Ala716Val) - VUS g.2578022G>A - BRAT1(NM_001350626.1):c.2327C>T (p.A776V) - BRAT1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2169T>A r.(?) p.(Leu723=) - likely benign g.2578000A>T - BRAT1(NM_001350626.1):c.2349T>A (p.L783=) - BRAT1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2208G>T r.(?) p.(Leu736=) - likely benign g.2577961C>A - BRAT1(NM_001350626.1):c.2388G>T (p.L796=), BRAT1(NM_001350626.2):c.2388G>T (p.L796=) - BRAT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2208G>T r.(?) p.(Leu736=) - likely benign g.2577961C>A - BRAT1(NM_001350626.1):c.2388G>T (p.L796=), BRAT1(NM_001350626.2):c.2388G>T (p.L796=) - BRAT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2228C>A r.(?) p.(Pro743His) - VUS g.2577941G>T - BRAT1(NM_152743.4):c.2228C>A (p.P743H) - BRAT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2388A>G r.(?) p.(Glu796=) - benign g.2577781T>C g.2538147T>C BRAT1(NM_152743.4):c.2388A>G (p.E796=) - BRAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2388A>G r.(?) p.(Glu796=) - benign g.2577781T>C g.2538147T>C BRAT1(NM_152743.4):c.2388A>G (p.E796=) - BRAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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