Full data view for gene MCF2

Information The variants shown are described using the NM_005369.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-49532G>A r.(?) p.(=) Unknown - benign g.138774209C>T g.139692050C>T MCF2(NM_001171876.2):c.-45+16056G>A - MCF2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-9225T>C r.(?) p.(=) Unknown - likely benign g.138733902A>G g.139651743A>G - - MCF2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4380C>T r.(?) p.(=) Unknown - VUS g.138729057G>A - MCF2(NM_001171876.2):c.31C>T (p.R11W) - MCF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3120G>A r.(?) p.(=) Unknown - VUS g.138727797C>T g.139645638C>T MCF2(NM_001099855.1):c.161G>A (p.(Arg54Gln)) - MCF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3095A>T r.(?) p.(=) Unknown - VUS g.138727772T>A g.139645613T>A MCF2(NM_001171876.1):c.186A>T (p.R62S) - MCF2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-165dup r.(?) p.(=) Unknown - VUS g.138724856dup g.139642697dup - - MCF2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-165dup r.(?) p.(=) Unknown - VUS g.138724856dup g.139642697dup - - MCF2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-163del r.(?) p.(=) Unknown - VUS g.138724841del g.139642682del - - MCF2_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-48C>T - p.(=) Maternal (inferred) - VUS g.138724725G>A g.139642566G>A - - MCF2_000012 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-48C>T - p.(=) Maternal (inferred) - VUS g.138724725G>A g.139642566G>A - - MCF2_000012 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 2 c.50C>T r.(?) p.(Ala17Val) Maternal (confirmed) - VUS g.138724628G>A g.139642469G>A - - MCF2_000013 in ExAC with AF of 0.0016%, not present in in-house database (312 individuals) - - rs144414622 Germline ? - - 0 - DNA SEQ, SEQ-NG-I blood - ? - - - M no Estonia Caucasian - 0 yes - 1 Sander Pajusalu
?/. - c.85G>A r.(?) p.(Val29Ile) Unknown - VUS g.138714580C>T - MCF2(NM_001171876.1):c.265G>A (p.V89I) - MCF2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146A>G r.(?) p.(Gln49Arg) Unknown - VUS g.138714519T>C g.139632360T>C MCF2(NM_001099855.1):c.326A>G (p.(Gln109Arg)) - MCF2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.171+112_171+113insTT r.(=) p.(=) Maternal (inferred) - VUS g.138714382_138714383insAA g.139632223_139632224insAA - - MCF2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.171+112_171+113insTT r.(=) p.(=) Maternal (inferred) - VUS g.138714382_138714383insAA g.139632223_139632224insAA - - MCF2_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.171+112_171+113insTT r.(=) p.(=) Maternal (inferred) - VUS g.138714382_138714383insAA g.139632223_139632224insAA - - MCF2_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.192dup r.(?) p.(Ser65Ter) Unknown - VUS g.138713651dup g.139631492dup MCF2(NM_001171876.1):c.372dupT (p.S125*) - MCF2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.288+90dup r.(=) p.(=) Maternal (inferred) - VUS g.138713470dup g.139631311dup - - MCF2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.288+90dup r.(=) p.(=) Maternal (inferred) - VUS g.138713470dup g.139631311dup - - MCF2_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.288+90dup r.(=) p.(=) Maternal (inferred) - VUS g.138713470dup g.139631311dup - - MCF2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.288+90dup r.(=) p.(=) Maternal (inferred) - VUS g.138713470dup g.139631311dup - - MCF2_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.368A>T r.(?) p.(Glu123Val) Unknown - VUS g.138711924T>A g.139629765T>A MCF2(NM_001099855.1):c.548A>T (p.(Glu183Val)) - MCF2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.391A>G r.(?) p.(Ile131Val) Unknown - likely benign g.138711901T>C g.139629742T>C MCF2(NM_001171876.1):c.571A>G (p.I191V) - MCF2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412C>T r.(?) p.(Arg138Cys) Unknown - VUS g.138711880G>A g.139629721G>A MCF2(NM_001171876.1):c.592C>T (p.R198C) - MCF2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808-147dup r.(=) p.(=) Maternal (inferred) - VUS g.138700020dup g.139617861dup - - MCF2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.808-147dup r.(=) p.(=) Maternal (inferred) - VUS g.138700020dup g.139617861dup - - MCF2_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.937G>A r.(?) p.(Glu313Lys) Unknown - VUS g.138699734C>T g.139617575C>T MCF2(NM_001099855.1):c.1117G>A (p.(Glu373Lys)) - MCF2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1000-33A>G r.(=) p.(=) Maternal (inferred) - VUS g.138698665T>C g.139616506T>C - - MCF2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1000-20del r.(=) p.(=) Maternal (inferred) - VUS g.138698652del g.139616493del - - MCF2_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1000-20del r.(=) p.(=) Maternal (inferred) - VUS g.138698652del g.139616493del - - MCF2_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 8 c.1004G>A r.(?) R335H Parent #1 - VUS g.138698628C>T g.139616469C>T R335H - MCF2_000048 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1120C>T r.(?) p.(Leu374=) Unknown - likely benign g.138698512G>A - MCF2(NM_001171876.1):c.1300C>T (p.L434=) - MCF2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 9i c.1192-35T>G r.(?) p.(=) Maternal (inferred) - likely benign g.138697246A>C g.139615087A>C - - MCF2_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.1192-35T>G r.(?) p.(=) Maternal (inferred) - likely benign g.138697246A>C g.139615087A>C - - MCF2_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1342C>T r.(?) p.(Pro448Ser) Unknown - likely benign g.138697061G>A g.139614902G>A MCF2(NM_001171876.1):c.1522C>T (p.P508S) - MCF2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12i c.1490+146A>T r.(?) p.(=) Maternal (inferred) - likely benign g.138689704T>A g.139607545T>A - - MCF2_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 12i c.1490+146A>T r.(?) p.(=) Maternal (inferred) - likely benign g.138689704T>A g.139607545T>A - - MCF2_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1558-24C>A r.(=) p.(=) Maternal (inferred) - VUS g.138687167G>T g.139605008G>T - - MCF2_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1558-24C>A r.(=) p.(=) Maternal (inferred) - VUS g.138687167G>T g.139605008G>T - - MCF2_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 15 c.1705C>T r.(?) H569Y Parent #1 - VUS g.138686878G>A g.139604719G>A H569Y - MCF2_000047 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
?/. 16 c.1780A>G r.(?) N594D Parent #1 - VUS g.138684621T>C g.139602462T>C N594D - MCF2_000046 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. 18 c.1962A>T r.(?) p.(Gly654=) Maternal (inferred) - benign g.138679712T>A g.139597553T>A - - MCF2_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. 18 c.1962A>T r.(?) p.(Gly654=) Maternal (inferred) - benign g.138679712T>A g.139597553T>A - - MCF2_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.1962A>T r.(?) p.(Gly654=) Unknown - benign g.138679712T>A g.139597553T>A MCF2(NM_001171876.2):c.2190A>T (p.G730=) - MCF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 18 c.1962A>T r.(?) G654G Parent #1 - likely benign g.138679712T>A g.139597553T>A G654G - MCF2_000004 recurrent, found 112 times PubMed: Tarpey 2009 - - Germline - 112/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 112 Lucy Raymond
-?/. 19 c.2241C>T r.(?) D747D Parent #1 - likely benign g.138678744G>A g.139596585G>A D747D - MCF2_000045 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2266C>T r.(?) p.(His756Tyr) Unknown - VUS g.138678719G>A g.139596560G>A MCF2(NM_001171876.1):c.2494C>T (p.H832Y) - MCF2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2277+190T>G r.(=) p.(=) Maternal (inferred) - VUS g.138678518A>C g.139596359A>C - - MCF2_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2277+190T>G r.(=) p.(=) Maternal (inferred) - VUS g.138678518A>C g.139596359A>C - - MCF2_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2371-107G>T r.(=) p.(=) Maternal (inferred) - VUS g.138670704C>A g.139588545C>A - - MCF2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2371-107G>T r.(=) p.(=) Maternal (inferred) - VUS g.138670704C>A g.139588545C>A - - MCF2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2371-1G>C r.spl? p.? Unknown - VUS g.138670598C>G g.139588439C>G MCF2(NM_001171876.1):c.2599-1G>C - MCF2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2633-115G>A r.(=) p.(=) Maternal (inferred) - VUS g.138667452C>T g.139585293C>T - - MCF2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2633-115G>A r.(=) p.(=) Maternal (inferred) - VUS g.138667452C>T g.139585293C>T - - MCF2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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