Unique variants in the MMACHC gene

Information The variants shown are described using the NM_015506.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

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     
+/., -/. 6 _1 - r.(=), r.0 p.(=), p.0 - benign, pathogenic (recessive) g.45965703G>T, g.45977087C>A, g.45977088T>A g.45500031G>T, g.45511415C>A, g.45511416T>A -302G>T - MMACHC_000038, PRDX1_000001, PRDX1_000002 variant silences 2 flanking transcripts PubMed: Guéant 2018 - rs3748643 Germline yes - - - - Johan den Dunnen
+/. 1 - c.3G>A r.(?) p.(Met1?) - pathogenic g.45966007G>A g.45500335G>A - - MMACHC_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs779893448 Germline - 2/2795 individuals - - - Mohammed Faruq
?/. 1 - c.8C>G r.(?) p.(Pro3Arg) - VUS g.45966012C>G g.45500340C>G MMACHC(NM_015506.2):c.8C>G (p.P3R) - MMACHC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.47T>C r.(?) p.(Leu16Pro) - VUS g.45966051T>C g.45500379T>C MMACHC(NM_015506.2):c.47T>C (p.(Leu16Pro)) - MMACHC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.67G>T r.(?) p.(Val23Phe) - VUS g.45966071G>T g.45500399G>T MMACHC(NM_015506.2):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.80A>G r.(?) p.(Gln27Arg) - likely pathogenic g.45966084A>G - - - MMACHC_000034 - - - - Germline - - - - - Sha Hong
+/. 1 - c.81G>A r.spl p.? - pathogenic (recessive) g.45966085G>A g.45500413G>A - - MMACHC_000036 - PubMed: Guéant 2018 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.126G>A r.(?) p.(Pro42=) - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_015506.2):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.145G>T r.(?) p.(Ala49Ser) - VUS g.45973091G>T - MMACHC(NM_015506.2):c.145G>T (p.A49S) - MMACHC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.157C>T r.(?) p.(Leu53Phe) - VUS g.45973103C>T g.45507431C>T MMACHC(NM_015506.2):c.157C>T (p.(Leu53Phe)) - MMACHC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.158T>C r.(?) p.(Leu53Pro) - pathogenic (recessive) g.45973104T>C g.45507432T>C - - MMACHC_000037 - PubMed: Guéant 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.178G>C r.(?) p.(Asp60His) - benign g.45973124G>C g.45507452G>C MMACHC(NM_015506.2):c.178G>C (p.D60H) - MMACHC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.181C>T r.(?) p.(Arg61Trp) - likely benign, VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W), MMACHC(NM_015506.2):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 - c.217C>T r.(?) p.(Arg73*) - pathogenic (recessive) g.45973163C>T - - - MMACHC_000031 - - - - Germline - - - - - Sha Hong
+/., ?/. 7 - c.271dup r.(?), r.271dup p.(Arg91Lysfs*14), p.(Arg91LysfsTer14), p.Arg91Lysfs*14 - pathogenic, pathogenic (recessive), VUS g.45973217dup g.45507545dup 270_271insA, 1 more item - MMACHC_000001, MMACHC_000006 VKGL data sharing initiative Nederland PubMed: Guéant 2018 - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.276G>T r.(?) p.(Glu92Asp) - likely pathogenic g.45973222G>T g.45507550G>T MMACHC(NM_015506.2):c.276G>T (p.E92D) - MMACHC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.276+6del r.(=) p.(=) - likely benign g.45973228del g.45507556del MMACHC(NM_015506.2):c.276+6delG - MMACHC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 - c.316G>A r.(?) p.(Glu106Lys) - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_015506.2):c.316G>A (p.E106K) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-/. 3 - c.321G>A r.(?) p.(Val107=) - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.2):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.347T>C r.(?) p.(Leu116Pro) - likely pathogenic g.45973954T>C g.45508282T>C - - MMACHC_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918240 Germline - 1/2794 individuals - - - Mohammed Faruq
+?/. 1 - c.389A>G r.(?) p.(Tyr130Cys) - likely pathogenic g.45973996A>G - - - MMACHC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.394C>T r.(?) p.(Arg132*) - pathogenic, pathogenic (recessive) g.45974001C>T g.45508329C>T - - MMACHC_000028 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918241 Germline - 3/2795 individuals - - - Mohammed Faruq, Sha Hong
-?/. 1 - c.405G>A r.(?) p.(Val135=) - likely benign g.45974012G>A g.45508340G>A MMACHC(NM_001330540.1):c.234G>A (p.V78=) - MMACHC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.433A>G r.(?) p.(Ile145Val) - VUS g.45974471A>G g.45508799A>G - - MMACHC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 - c.440G>C r.(?) p.(Gly147Ala) - likely pathogenic, pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_015506.2):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 2 - c.472T>C r.(?) p.(Phe158Leu) - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 2 - c.609G>A r.(?) p.(Trp203*) - pathogenic, pathogenic (recessive) g.45974647G>A g.45508975G>A - - MMACHC_000032 - - - - Germline - - - - - Sha Hong
+/. 2 - c.658_660del r.(?) p.(Lys220del) - pathogenic g.45974696_45974698del g.45509024_45509026del 658_660delAAG - MMACHC_000033 no variant 2nd allele reported - - - Germline - - - - - Sha Hong
?/. 1 - c.770C>T r.(?) p.(Pro257Leu) - VUS g.45974808C>T g.45509136C>T MMACHC(NM_015506.2):c.770C>T (p.P257L) - MMACHC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.797C>G r.(?) p.(Ala266Gly) - likely benign g.45974835C>G g.45509163C>G MMACHC(NM_015506.2):c.797C>G (p.(Ala266Gly)) - MMACHC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.811A>G r.(?) p.(Ser271Gly) - benign g.45974849A>G g.45509177A>G MMACHC(NM_015506.2):c.811A>G (p.S271G) - MMACHC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.848G>C r.(?) p.(*283Serext*14) ACMG VUS g.45974886G>C g.45509214G>C MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14) - MMACHC_000030 no second variant detected in MMACHC, VKGL data sharing initiative Nederland - - rs201025783 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
?/. 1 - c.848G>T r.(?) p.(*283Leuext*14) - VUS g.45974886G>T g.45509214G>T - - MMACHC_000029 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201025783 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.848_*2del r.(?) p.(Ter283PheextTer6) - VUS g.45974886_45974889del g.45509214_45509217del MMACHC(NM_015506.2):c.846_849delTTGA (p.*283Ffs*7) - MMACHC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*2173T>C r.(=) p.(=) - likely benign g.45977060T>C g.45511388T>C PRDX1(NM_001202431.1):c.541A>G (p.(Ser181Gly)) - MMACHC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query