Unique variants in gene BRAF

Information The variants shown are described using the NM_004333.4 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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 - c.-5A>G r.(?) p.(=) - likely benign g.140624508T>C g.140924708T>C - - BRAF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -?/. 2 - c.64G>A r.(?) p.(Asp22Asn) - VUS, likely benign g.140624440C>T g.140924640C>T BRAF(NM_004333.4):c.64G>A (p.D22N) - BRAF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.78G>T r.(?) p.(Glu26Asp) - benign g.140624426C>A g.140924626C>A BRAF(NM_004333.4):c.78G>T (p.E26D) - BRAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.95_100dup r.(?) p.(Gly32_Ala33dup) - likely benign g.140624420_140624425dup g.140924620_140924625dup BRAF(NM_004333.4):c.100_101insGCGCCG (p.(Gly32_Ala33dup)) - BRAF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.113C>T r.(?) p.(Ala38Val) - VUS g.140624391G>A g.140924591G>A BRAF(NM_004333.4):c.113C>T (p.A38V) - BRAF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.139-12A>C r.(=) p.(=) - likely benign g.140550024T>G g.140850224T>G - - BRAF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.240+18A>G r.(=) p.(=) - likely benign g.140549893T>C g.140850093T>C BRAF(NM_004333.4):c.240+18A>G - BRAF_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.261C>G r.(?) p.(Ser87Arg) - VUS g.140534652G>C g.140834852G>C BRAF(NM_004333.4):c.261C>G (p.(Ser87Arg)) - BRAF_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.357C>T r.(?) p.(Thr119=) - likely benign g.140534556G>A g.140834756G>A BRAF(NM_004333.4):c.357C>T (p.T119=, p.(=)) - BRAF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.368C>T r.(?) p.(Ser123Phe) - VUS g.140534545G>A - BRAF(NM_001354609.1):c.368C>T (p.S123F) - BRAF_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.722C>T r.(?) p.(Thr241Met) - pathogenic g.140501350G>A g.140801550G>A BRAF(NM_004333.4):c.722C>T (p.T241M) - BRAF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
+?/. 1 - c.741T>G r.(?) p.(Phe247Leu) - likely pathogenic g.140501331A>C g.140801531A>C - - BRAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.769C>A r.(?) p.(Gln257Lys) - pathogenic g.140501303G>T g.140801503G>T - - BRAF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 6 c.770A>G r.(?), r.?= p.(Gln257Arg) - pathogenic, likely pathogenic g.140501302T>C g.140801502T>C - - BRAF_000002 VKGL data sharing initiative Nederland PubMed: Joyce 2016 - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Nijmegen, Pia Ostergaard
?/. 1 - c.778C>G r.(?) p.(Arg260Gly) - VUS g.140501294G>C g.140801494G>C - - BRAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.785A>C r.(?) p.(Gln262Pro) - likely pathogenic g.140501287T>G g.140801487T>G - - BRAF_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.837G>A r.(?) p.(Met279Ile) - likely benign, VUS g.140501235C>T g.140801435C>T BRAF(NM_004333.4):c.837G>A (p.(Met279Ile)) - BRAF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 1 - c.1002G>A r.(?) p.(Pro334=) - likely benign g.140494246C>T g.140794446C>T BRAF(NM_004333.4):c.1002G>A (p.P334=) - BRAF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1021C>G r.(?) p.(Pro341Ala) - VUS g.140494227G>C g.140794427G>C BRAF(NM_001354609.2):c.1021C>G (p.P341A) - BRAF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1024A>G r.(?) p.(Ile342Val) - likely benign g.140494224T>C g.140794424T>C BRAF(NM_004333.4):c.1024A>G (p.I342V) - BRAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1058A>G r.(?) p.His353Arg ACMG VUS g.140494190T>C g.140794390T>C - - BRAF_000070 ACMG grading: PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.1085G>A r.(?) p.(Arg362Gln) - likely pathogenic g.140494163C>T g.140794363C>T - - BRAF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1141-19C>T r.(=) p.(=) - benign g.140487403G>A g.140787603G>A BRAF(NM_001354609.2):c.1141-19C>T - BRAF_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1141G>A r.(?) p.(Asp381Asn) - VUS g.140487384C>T - BRAF(NM_004333.4):c.1141G>A (p.(Asp381Asn)) - BRAF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1150A>G r.(?) p.(Arg384Gly) - likely benign g.140487375T>C g.140787575T>C - - BRAF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 2 - c.1227A>G r.(?) p.(Ser409=) - likely benign, benign g.140482908T>C g.140783108T>C BRAF(NM_001354609.1):c.1227A>G (p.S409=), BRAF(NM_004333.4):c.1227A>G (p.S409=) - BRAF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1271G>A r.(?) p.(Arg424Gln) - VUS g.140482864C>T - BRAF(NM_004333.4):c.1271G>A (p.R424Q) - BRAF_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1315-18T>G r.(=) p.(=) - benign g.140481511A>C g.140781711A>C BRAF(NM_004333.4):c.1315-18T>G - BRAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.1332G>A r.(?) p.(Arg444=) - likely benign g.140481476C>T g.140781676C>T BRAF(NM_004333.4):c.1332G>A (p.R444=) - BRAF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1383A>G r.(?) p.(Gln461=) - benign g.140481425T>C g.140781625T>C - - BRAF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1390G>A r.(?) p.(Gly464Arg) - pathogenic g.140481418C>T g.140781618C>T - - BRAF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1391G>T r.(?) p.(Gly464Val) - pathogenic g.140481417C>A g.140781617C>A - - BRAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1429C>T r.(?) p.(His477Tyr) - likely benign g.140481379G>A g.140781579G>A BRAF(NM_004333.4):c.1429C>T (p.(His477Tyr)) - BRAF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1433-19A>G r.(=) p.(=) - likely benign g.140477894T>C g.140778094T>C BRAF(NM_004333.4):c.1433-19A>G - BRAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.1442C>A r.(?) p.(Ala481Glu) - likely pathogenic g.140477866G>T g.140778066G>T - - BRAF_000075 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs397516892 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 - c.1460T>G r.(?) p.(Val487Gly) ACMG pathogenic (dominant) g.140477848A>C g.140778048A>C - - BRAF_000077 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.1490C>T r.(?) p.(Ala497Val) - VUS g.140477818G>A g.140778018G>A BRAF(NM_004333.4):c.1490C>T (p.A497V) - BRAF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1495A>G r.(?) p.(Lys499Glu) - pathogenic g.140477813T>C g.140778013T>C - - BRAF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1497A>C r.(?) p.(Lys499Asn) - pathogenic g.140477811T>G - - - BRAF_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1505T>A r.(?) p.(Val502Glu) - VUS g.140477803A>T g.140778003A>T BRAF(NM_004333.4):c.1505T>A (p.V502E) - BRAF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1513C>T r.(?) p.(Leu505Phe) - pathogenic g.140477795G>A g.140777995G>A - - BRAF_000074 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs397507477 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.1518_1526dup r.(?) p.(Lys507_Arg509dup) - likely pathogenic g.140476881_140476889dup g.140777081_140777089dup - - BRAF_000044 - - - - Somatic - - - - - Lisa-Marie Niestroj
?/. 1 - c.1591T>C r.(?) p.(Trp531Arg) - VUS g.140476815A>G g.140777015A>G - - BRAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.1595G>A r.(?) p.(Cys532Tyr) - pathogenic g.140476811C>T g.140777011C>T - - BRAF_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1673G>A r.(?) p.(Arg558Gln) - likely pathogenic g.140476733C>T g.140776933C>T BRAF(NM_004333.4):c.1673G>A (p.(Arg558Gln)) - BRAF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1729C>A r.(?) p.(Leu577Ile) - likely pathogenic g.140453999G>T g.140754199G>T - - BRAF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.1741A>G r.(?) p.(Asn581Asp) - pathogenic g.140453987T>C g.140754187T>C BRAF(NM_004333.4):c.1741A>G (p.N581D) - BRAF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
+?/. 1 - c.1743T>G r.(?) p.(Asn581Lys) - likely pathogenic g.140453192A>C g.140753392A>C - - BRAF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1781A>T r.(?) p.(Asp594Val) - pathogenic g.140453154T>A g.140753354T>A - - BRAF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1787G>T r.(?) p.(Gly596Val) - pathogenic g.140453148C>A g.140753348C>A - - BRAF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +/. 7 0 c.1799T>A r.(?), r.(=) p.(Val600Glu) - likely pathogenic, pathogenic g.140453136A>T g.140753336A>T - - BRAF_000001 - - - - Somatic, Germline - - - - - Phil Chambers, Andreas Laner, Lisa-Marie Niestroj
./. 1 - c.1802A>T r.(?) p.(Lys601Ile) - pathogenic g.140453133T>A g.140753333T>A - - BRAF_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1861-7C>G r.(=) p.(=) - likely benign g.140449225G>C g.140749425G>C - - BRAF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1897T>C r.(?) p.(Tyr633His) - VUS g.140449182A>G g.140749382A>G - - BRAF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.1914T>G r.(?) p.(Asp638Glu) - pathogenic g.140449165A>C g.140749365A>C BRAF(NM_004333.4):c.1914T>G (p.D638E) - BRAF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-/. 1 - c.1929A>G r.(?) p.(Gly643=) - benign g.140449150T>C g.140749350T>C BRAF(NM_004333.4):c.1929A>G (p.G643=) - BRAF_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1957C>T r.(?) p.(Gln653Ter) - VUS g.140449122G>A g.140749322G>A BRAF(NM_004333.4):c.1957C>T (p.Q653*) - BRAF_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1992+16G>C r.(=) p.(=) - benign g.140449071C>G g.140749271C>G BRAF(NM_004333.4):c.1992+16G>C - BRAF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1993-10dup r.(=) p.(=) - benign g.140439756dup g.140739956dup BRAF(NM_004333.4):c.1993-10dupC - BRAF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2128-27_2128-18del r.(=) p.(=) - benign g.140434604_140434613del g.140734804_140734813del BRAF(NM_004333.4):c.2128-27_2128-18delCTTTTTTTTT - BRAF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2128-23_2128-17dup r.(=) p.(=) - likely benign g.140434590_140434596dup g.140734790_140734796dup BRAF(NM_004333.4):c.2128-23_2128-17dupTTTTTTT - BRAF_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2128-17dup r.(=) p.(=) - benign g.140434596dup g.140734796dup BRAF(NM_004333.4):c.2128-17dupT - BRAF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT r.(=) p.(=) - likely benign g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAA g.140734796_140734797insAAAAAAAAAAAAAAAAAAAAAAA BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT - BRAF_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT r.(=) p.(=) - likely benign g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAAA g.140734796_140734797insAAAAAAAAAAAAAAAAAAAAAAAA BRAF(NM_004333.4):c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT - BRAF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.2128-5del r.spl? p.? - benign, likely benign g.140434585del g.140734785del BRAF(NM_004333.4):c.2128-5delT - BRAF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., -/. 3 - c.2128-5dup r.spl? p.? - likely benign, benign g.140434585dup g.140734785dup BRAF(NM_004333.4):c.2128-5dup (p.?), BRAF(NM_004333.4):c.2128-5dupT - BRAF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT r.spl? p.? - likely benign g.140434585_140434586insAAAAAAAAAAAAAAAAAAAA g.140734785_140734786insAAAAAAAAAAAAAAAAAAAA BRAF(NM_004333.4):c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT - BRAF_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2128-4G>T r.spl? p.? - likely benign g.140434574C>A g.140734774C>A BRAF(NM_004333.4):c.2128-4G>T - BRAF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2156G>A r.(?) p.(Arg719His) - VUS g.140434542C>T g.140734742C>T - - BRAF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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