Unique variants in the MTRR gene

Information The variants shown are described using the NM_002454.2 transcript reference sequence.

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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.-2532C>G r.(?) p.(=) - likely benign g.7866822C>G g.7866709C>G FASTKD3(NM_024091.3):c.1375G>C (p.(Glu459Gln)) - C5orf49_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-2448T>G r.(?) p.(=) - VUS g.7866906T>G g.7866793T>G FASTKD3(NM_024091.3):c.1291A>C (p.(Lys431Gln)) - FASTKD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1945A>C r.(?) p.(=) - VUS g.7867409A>C g.7867296A>C FASTKD3(NM_024091.3):c.788T>G (p.(Leu263Trp)) - C5orf49_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1874_-1872del r.(?) p.(=) - likely benign g.7867480_7867482del g.7867367_7867369del FASTKD3(NM_024091.3):c.717_719del (p.(Ile240del)) - C5orf49_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1696G>A r.(?) p.(=) - VUS g.7867658G>A g.7867545G>A FASTKD3(NM_024091.3):c.539C>T (p.(Thr180Ile)) - C5orf49_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1435T>C r.(?) p.(=) - VUS g.7867919T>C g.7867806T>C FASTKD3(NM_024091.3):c.278A>G (p.(Asn93Ser)) - FASTKD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1311G>C r.(?) p.(=) - VUS g.7868043G>C g.7867930G>C FASTKD3(NM_024091.3):c.154C>G (p.(Pro52Ala)) - FASTKD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1022_-1018del r.(?) p.(=) - likely benign g.7868332_7868336del g.7868219_7868223del FASTKD3(NM_024091.3):c.-113-9_-113-5del (p.(=)) - C5orf49_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1022_-1018dup r.(?) p.(=) - likely benign g.7868332_7868336dup g.7868219_7868223dup FASTKD3(NM_024091.3):c.-113-8_-113-7insTTTTT (p.(=)) - C5orf49_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1021_-1018del r.(?) p.(=) - likely benign g.7868333_7868336del g.7868220_7868223del FASTKD3(NM_024091.3):c.-113-8_-113-5del (p.(=)) - C5orf49_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1021_-1018dup r.(?) p.(=) - likely benign g.7868333_7868336dup g.7868220_7868223dup FASTKD3(NM_024091.3):c.-113-5_-113-4insTTTT (p.(=)) - C5orf49_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1020_-1018del r.(?) p.(=) - likely benign g.7868334_7868336del g.7868221_7868223del FASTKD3(NM_024091.3):c.-113-7_-113-5del (p.(=)) - C5orf49_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1018dup r.(?) p.(=) - likely benign g.7868336dup g.7868223dup FASTKD3(NM_024091.3):c.-113-8dup (p.(=)) - C5orf49_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.-119T>C r.(?) p.(=) - benign g.7869235T>C g.7869122T>C MTRR(NM_002454.2):c.-119T>C - MTRR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.66A>G r.(?) p.(Ile22Met) - benign g.7870973A>G g.7870860A>G MTRR(NM_002454.2):c.66A>G (p.I22M), MTRR(NM_002454.3):c.66A>G (p.I22M) - MTRR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.160G>A r.(?) p.(Val54Ile) - VUS g.7873516G>A g.7873403G>A MTRR(NM_002454.2):c.160G>A (p.V54I) - MTRR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.177C>G r.(?) p.(Thr59=) - likely benign g.7873533C>G g.7873420C>G MTRR(NM_002454.2):c.177C>G (p.T59=) - C5orf49_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.210C>G r.(?) p.(Arg70=) - benign, likely benign g.7873566C>G g.7873453C>G MTRR(NM_002454.2):c.210C>G (p.R70=) - MTRR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.288C>T r.(?) p.(Leu96=) - benign g.7875375C>T g.7875262C>T MTRR(NM_002454.2):c.288C>T (p.L96=) - C5orf49_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.446C>T r.(?) p.(Ala149Val) - VUS g.7878101C>T g.7877988C>T - - MTRR_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142714881 Germline - 1/2793 individuals - - - Mohammed Faruq
-?/. 1 - c.505G>A r.(?) p.(Val169Met) - likely benign g.7878160G>A g.7878047G>A MTRR(NM_002454.2):c.505G>A (p.V169M) - MTRR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.524C>T r.(?) p.(Ser175Leu) - benign g.7878179C>T g.7878066C>T MTRR(NM_002454.2):c.524C>T (p.S175L), MTRR(NM_002454.3):c.524C>T (p.S175L) - MTRR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.537T>C r.(?) p.(Leu179=) - benign g.7878192T>C g.7878079T>C MTRR(NM_002454.2):c.537T>C (p.L179=) - MTRR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.769T>A r.(?) p.(Ser257Thr) - benign g.7878424T>A g.7878311T>A MTRR(NM_002454.2):c.769T>A (p.S257T) - MTRR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.781-2A>T r.spl? p.? - pathogenic g.7883266A>T - MTRR(NM_001364440.1):c.781-2A>T - C5orf49_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.869T>C r.(?) p.(Ile290Thr) - VUS g.7883356T>C g.7883243T>C MTRR(NM_002454.2):c.869T>C (p.I290T) - C5orf49_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.904-21_904-20dup r.(=) p.(=) - likely benign g.7885793_7885794dup g.7885680_7885681dup MTRR(NM_002454.3):c.904-19_904-18insTT - MTRR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.904-20dup r.(=) p.(=) - benign g.7885794dup g.7885681dup MTRR(NM_002454.3):c.904-20_904-19insT - MTRR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.904-20_904-19insTC r.(=) p.(=) - likely benign g.7885794_7885795insTC g.7885681_7885682insTC MTRR(NM_001364440.2):c.904-20_904-19insTC - C5orf49_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.904-19dup r.(=) p.(=) - likely benign g.7885795dup g.7885682dup MTRR(NM_002454.2):c.904-19dupC - C5orf49_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.904-6C>T r.(=) p.(=) - likely benign g.7885808C>T g.7885695C>T MTRR(NM_002454.2):c.904-6C>T (p.(=)) - C5orf49_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.904-4C>T r.spl? p.? - likely benign g.7885810C>T g.7885697C>T MTRR(NM_002454.2):c.904-4C>T (p.?) - C5orf49_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.997C>G r.(?) p.(Leu333Val) - benign g.7885907C>G g.7885794C>G MTRR(NM_002454.2):c.997C>G (p.L333V), MTRR(NM_002454.3):c.997C>G (p.L333V) - MTRR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1049A>G r.(?) p.(Lys350Arg) - benign g.7885959A>G g.7885846A>G MTRR(NM_002454.2):c.1049A>G (p.K350R) - MTRR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1146+3A>T r.spl? p.? - VUS g.7886819A>T g.7886706A>T MTRR(NM_002454.2):c.1146+3A>T - C5orf49_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1155G>A r.(?) p.(Leu385=) - benign g.7889216G>A g.7889103G>A MTRR(NM_002454.2):c.1155G>A (p.L385=) - MTRR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1243C>T r.(?) p.(Arg415Cys) - benign g.7889304C>T g.7889191C>T MTRR(NM_002454.2):c.1243C>T (p.R415C) - MTRR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1326C>T r.(?) p.(Leu442=) - likely benign g.7889387C>T g.7889274C>T MTRR(NM_002454.2):c.1326C>T (p.L442=) - MTRR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1349C>G r.(?) p.(Pro450Arg) - benign g.7891506C>G g.7891393C>G MTRR(NM_002454.2):c.1349C>G (p.P450R) - C5orf49_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1370+19G>A r.(=) p.(=) - benign g.7891546G>A g.7891433G>A MTRR(NM_002454.2):c.1370+19G>A - C5orf49_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1464A>G r.(?) p.(Val488=) - benign g.7892933A>G g.7892820A>G MTRR(NM_002454.2):c.1464A>G (p.V488=) - C5orf49_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1468A>G r.(?) p.(Thr490Ala) - benign, likely benign g.7892937A>G g.7892824A>G MTRR(NM_002454.2):c.1468A>G (p.T490A, p.(Thr490Ala)) - MTRR_000027 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs41283145 CLASSIFICATION record, Germline - 4/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.1536C>T r.(?) p.(Ser512=) - benign g.7893005C>T g.7892892C>T MTRR(NM_002454.2):c.1536C>T (p.S512=) - C5orf49_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1544C>T r.(?) p.(Ala515Val) - likely benign g.7893013C>T g.7892900C>T MTRR(NM_002454.2):c.1544C>T (p.(Ala515Val)) - C5orf49_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1574G>A r.(?) p.(Arg525Gln) - VUS g.7895863G>A g.7895750G>A MTRR(NM_002454.2):c.1574G>A (p.(Arg525Gln)) - MTRR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1653G>A r.(?) p.(Pro551=) - benign g.7895942G>A g.7895829G>A MTRR(NM_002454.2):c.1653G>A (p.P551=) - MTRR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1676+20A>G r.(=) p.(=) - benign g.7895985A>G g.7895872A>G MTRR(NM_002454.2):c.1676+20A>G - C5orf49_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1677-9del r.(=) p.(=) - benign g.7896968del g.7896855del MTRR(NM_002454.2):c.1677-9delT - MTRR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1677-9dup r.(=) p.(=) - benign g.7896968dup g.7896855dup MTRR(NM_002454.2):c.1677-9dupT - C5orf49_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1677-8C>T r.(=) p.(=) - likely benign g.7896969C>T g.7896856C>T MTRR(NM_002454.2):c.1677-8C>T (p.(=)) - C5orf49_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1677-8_1677-5del r.spl? p.? - likely benign g.7896969_7896972del g.7896856_7896859del MTRR(NM_002454.2):c.1677-8_1677-5del (p.?) - C5orf49_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1677-3_1677-2insTTTT r.spl? p.? - likely benign g.7896974_7896975insTTTT g.7896861_7896862insTTTT MTRR(NM_002454.2):c.1677-5_1677-4insTTTT (p.?) - C5orf49_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1736G>A r.(?) p.(Gly579Asp) - VUS g.7897036G>A g.7896923G>A - - C5orf49_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - c.1761T>C r.(=), r.(?) p.(=), p.(Tyr587=) - benign, VUS g.7897061T>C g.7896948T>C MTRR(NM_002454.2):c.1761T>C (p.Y587=) - C5orf49_000035 conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs6874544 CLASSIFICATION record, Germline - 17/2792 individuals - - - VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.1783C>T r.(?) p.(His595Tyr) - benign g.7897191C>T g.7897078C>T MTRR(NM_002454.2):c.1783C>T (p.H595Y) - MTRR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1809T>A r.(?) p.(Thr603=) - benign g.7897217T>A g.7897104T>A MTRR(NM_002454.2):c.1809T>A (p.T603=) - C5orf49_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1819G>A r.(?) p.(Val607Ile) - likely benign g.7897227G>A g.7897114G>A - - MTRR_000029 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114259126 Germline - 3/2794 individuals - - - Mohammed Faruq
-/. 1 - c.1875G>A r.(?) p.(Val625=) - benign g.7897283G>A g.7897170G>A MTRR(NM_002454.2):c.1875G>A (p.V625=) - MTRR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1911G>A r.(?) p.(Ala637=) - benign g.7897319G>A g.7897206G>A MTRR(NM_002454.2):c.1911G>A (p.A637=), MTRR(NM_002454.3):c.1911G>A (p.A637=) - MTRR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.1982A>G r.(?) p.(His661Arg) - likely benign g.7900056A>G g.7899943A>G MTRR(NM_002454.2):c.1982A>G (p.H661R) - MTRR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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