Full data view for gene GFM1

Information The variants shown are described using the NM_024996.5 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
-/. 1 c.-31A>G r.(?) p.(=) Parent #1 - benign g.158362393A>G g.158644604A>G - - GFM1_000003 - - - rs28372853 Germline - frequency up to 0.04 - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1A>T r.(?) p.? Unknown - likely pathogenic g.158362424A>T - GFM1(NM_024996.7):c.1A>T (p.M1?) - GFM1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18T>C r.(?) p.(Ala6=) Unknown - benign g.158362441T>C g.158644652T>C GFM1(NM_024996.7):c.18T>C (p.A6=) - GFM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18T>C r.(?) p.(Ala6=) Unknown - benign g.158362441T>C - GFM1(NM_024996.7):c.18T>C (p.A6=) - GFM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77A>G r.(?) p.(Lys26Arg) Unknown - likely benign g.158362500A>G - GFM1(NM_024996.7):c.77A>G (p.(Lys26Arg)) - GFM1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127A>G r.(?) p.(Asn43Asp) Unknown - likely benign g.158363463A>G g.158645674A>G GFM1(NM_024996.5):c.127A>G (p.(Asn43Asp)) - GFM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127A>G r.(?) p.(Asn43Asp) Parent #1 - VUS g.158363463A>G g.158645674A>G - - GFM1_000022 conflicting interpretations of pathogenicity; 34 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35942089 Germline - 34/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
?/. - c.127A>G r.(?) p.(Asn43Asp) Both (homozygous) - VUS g.158363463A>G g.158645674A>G - - GFM1_000022 conflicting interpretations of pathogenicity; 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35942089 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 2 c.139C>T r.139c>u p.Arg47* Paternal (confirmed) - pathogenic g.158363475C>T g.158645686C>T - - GFM1_000007 - PubMed: Valente 2007, OMIM:var0002 - rs119470019 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - COXPD1 - PubMed: Antonicka 2007 family, 1 affected, unaffected heterozygous carrier parents/sibs F no Italy - 01y04m - - - 1 Johan den Dunnen
+/. - c.273del r.(?) p.(Met92TrpfsTer3) Parent #1 - pathogenic g.158363992del g.158646203del - - GFM1_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224033 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.355A>G r.(?) p.(Ile119Val) Unknown - VUS g.158364074A>G - GFM1(NM_024996.7):c.355A>G (p.I119V) - GFM1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.409G>A r.(?) p.(Val137Met) Unknown - likely pathogenic g.158364573G>A - GFM1(NM_024996.7):c.409G>A (p.V137M) - GFM1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.521A>G r.521a>g p.Asn174Ser Both (homozygous) - pathogenic g.158364685A>G g.158646896A>G - - GFM1_000006 not in 200 control chromosomes PubMed: Coenen 2004, OMIM:var0001 - rs119470018 Germline yes - MseI- - - DNA, RNA RT-PCRq, SEQ fibroblast - COXPD1 - PubMed: Coenen 2004 2-generation family, 2 sibs, unaffected heterozygous carrier parents F;M yes Lebanon - <00y05m - - - 1 Johan den Dunnen
+/. 4 c.539del r.(?) p.(Gly180Alafs*11) Paternal (confirmed) - pathogenic g.158364703del g.158646914del 539delG - GFM1_000011 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - - - DNA SEQ liver - COXPD1 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no China - 00y08m - - - 1 Johan den Dunnen
+?/. - c.541T>C r.(?) p.(Ser181Pro) Unknown - likely pathogenic g.158364705T>C - - - GFM1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.643G>A r.(?) p.(Val215Ile) Unknown - benign g.158366900G>A g.158649111G>A GFM1(NM_024996.7):c.643G>A (p.V215I) - GFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.643G>A r.(?) p.(Val215Ile) Unknown - benign g.158366900G>A - GFM1(NM_024996.7):c.643G>A (p.V215I) - GFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.688G>A r.(?) p.(Gly230Ser) Maternal (confirmed) - pathogenic g.158366945G>A g.158649156G>A - - GFM1_000012 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - - - DNA SEQ liver - COXPD1 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no China - 00y08m - - - 1 Johan den Dunnen
-?/. - c.689+884T>C r.(=) p.(=) Unknown - likely benign g.158367830T>C - GFM1(NM_001308164.1):c.726T>C (p.N242=) - GFM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.689+908G>A r.689_690ins689+848_689+904 p.Gly230_231Glnins19 Paternal (confirmed) - pathogenic (recessive) g.158367854G>A g.158650065G>A 689+908G>A NM_001308164.1:c.746+4G>A - GFM1_000005 variant activates splice donor site cryptic exon (NM_001308164.1:c.746+4G>A), activating its inclusion in the major mRNA transcript PubMed: Simon 2017 - - Germline yes - - - - DNA, RNA DSDI, RT-PCR, SEQ, SEQ-NG - - COXPD1 28216230-Pat1/2 PubMed: Simon 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Mexico Hispanic - - - - 2 Mariella Simon
?/. 5i c.690-5C>G r.spl? p.? Parent #1 - VUS g.158369880C>G g.158652091C>G - - GFM1_000001 - - 210958 rs201685981 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 6 c.720del r.(?) p.(Glu241Asnfs*2) Maternal (confirmed) - pathogenic (recessive) g.158369915del g.158652126del 720delT - GFM1_000013 variant undetectable in mRNA PubMed: Calvo 2012 - - Germline - - - - - DNA, RNA RT-PCRq, SEQ, SEQ-NG - - COXPD1 22277967-P18 PubMed: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib M ? - - - - - - 1 Mariella Simon
+/. 6 c.720del r.(?) p.(Glu241Asnfs*2) Maternal (confirmed) - pathogenic g.158369915del g.158652126del - - GFM1_000013 variant undetectable in mRNA PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - COXPD1 22277967-P29 PubMed: Calvo 2012, Journal: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier mother F no - - - - - - 1 Johan den Dunnen
+/. - c.720del r.(?) p.(Glu241Asnfs*2) Unknown - pathogenic g.158369915del - - - GFM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.748C>T r.(?) p.(Arg250Trp) Maternal (confirmed) - pathogenic (recessive) g.158369943C>T g.158652154C>T - - GFM1_000004 - PubMed: Simon 2017 30398 rs139430866 Germline yes - - - - DNA, RNA DSDI, RT-PCR, SEQ, SEQ-NG - - COXPD1 28216230-Pat1/2 PubMed: Simon 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Mexico Hispanic - - - - 2 Mariella Simon
+/. 6 c.748C>T r.(?) p.(Arg250Trp) Both (homozygous) - pathogenic g.158369943C>T g.158652154C>T - - GFM1_000004 not in 200 control chromosomes; defect rescued by over-expressing normal GFM1 in patient fibroblasts PubMed: Smits 2011, Journal: Smits 2011, OMIM:var0004 - rs139430866 Germline - - - - - DNA SEQ - - ? - PubMed: Smits 2011, Journal: Smits 2011 - F yes Netherlands - 02y - - - 1 Johan den Dunnen
+/. - c.748C>T r.(?) p.(Arg250Trp) Unknown - pathogenic g.158369943C>T - - - GFM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788A>G r.(?) p.(Gln263Arg) Unknown - likely benign g.158369983A>G - GFM1(NM_001308164.1):c.845A>G (p.Q282R) - GFM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808G>A r.(?) p.(Glu270Lys) Unknown - VUS g.158370003G>A g.158652214G>A GFM1(NM_024996.5):c.808G>A (p.(Glu270Lys)) - GFM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.833A>G r.(?) p.(Asn278Ser) Unknown ACMG likely pathogenic g.158369971A>G - - - GFM1_000038 - - - rs375512235 Unknown - - - - - DNA SEQ-NG - - SUD SUDS030 PubMed: Neubauer 2021 - F - Switzerland Europe 34y - - - 1 Cordula Haas
+/. 7 c.910A>G r.910a>g p.Lys304Glu Paternal (inferred) - pathogenic g.158371168A>G g.158653379A>G - - GFM1_000015 father not available for analysis; protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - COXPD1 22277967-P29 PubMed: Calvo 2012, Journal: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier mother F no - - - - - - 1 Johan den Dunnen
+/. 7 c.961T>C r.961u>c p.Ser321Pro Paternal (confirmed) - pathogenic g.158371219T>C g.158653430T>C - - GFM1_000009 - PubMed: Antonicka 2006 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - COXPD1 - PubMed: Antonicka 2006 family, 2 affected sibs, unaffected heterozygous carrier parents F no United States - <00y00m09d - - - 2 Johan den Dunnen
-?/. 8i c.1083+89del r.(?) p.(=) Parent #1 - likely benign g.158372509del g.158654720del - - GFM1_000002 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1299C>A r.(?) p.(Asp433Glu) Unknown - likely benign g.158378740C>A - GFM1(NM_001308164.1):c.1356C>A (p.D452E) - GFM1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1487T>G r.1487u>g p.Met496Arg Maternal (confirmed) - pathogenic g.158383232T>G g.158665443T>G - - GFM1_000008 - PubMed: Valente 2007, OMIM:var0003 - rs119470020 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - COXPD1 - PubMed: Antonicka 2007 family, 1 affected, unaffected heterozygous carrier parents/sibs F no Italy - 01y04m - - - 1 Johan den Dunnen
+?/. - c.1583C>T r.(?) p.(Thr528Ile) Parent #1 - likely pathogenic g.158384157C>T g.158666368C>T - - GFM1_000031 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224035 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1602-17dup r.(=) p.(=) Unknown - benign g.158399767dup g.158681978dup GFM1(NM_024996.7):c.1602-17dupT - GFM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1765-2_1765-1del r.1765_1909del p.Gly589Profs*19 Maternal (confirmed) - pathogenic g.158402311_158402312del g.158684522_158684523del 1765-2_1765-1delAG - GFM1_000010 - PubMed: Antonicka 2006 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - COXPD1 - PubMed: Antonicka 2006 family, 2 affected sibs, unaffected heterozygous carrier parents F no United States - <00y00m09d - - - 2 Johan den Dunnen
?/. - c.1823G>A r.(?) p.(Arg608Gln) Unknown - VUS g.158402371G>A - GFM1(NM_024996.7):c.1823G>A (p.(Arg608Gln)) - GFM1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1830C>T r.(?) p.(Val610=) Unknown - likely benign g.158402378C>T g.158684589C>T GFM1(NM_024996.7):c.1830C>T (p.V610=) - GFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1910-7A>T r.(=) p.(=) Unknown - likely benign g.158407945A>T g.158690156A>T GFM1(NM_024996.5):c.1910-7A>T (p.(=)) - GFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1942C>T r.(?) p.(Pro648Ser) Unknown - VUS g.158407984C>T g.158690195C>T GFM1(NM_024996.7):c.1942C>T (p.(Pro648Ser)) - GFM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1990G>A r.(?) p.(Val664Ile) Unknown - likely benign g.158408032G>A g.158690243G>A GFM1(NM_024996.5):c.1990G>A (p.(Val664Ile)) - GFM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2011C>T r.2011c>u p.Arg671Cys Paternal (confirmed) - pathogenic g.158408053C>T g.158690264C>T - - GFM1_000014 protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV PubMed: Calvo 2012 214500 rs201408725 Germline - - - - - DNA, RNA RT-PCRq, SEQ, SEQ-NG - - COXPD1 22277967-P18 PubMed: Calvo 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib M ? - - - - - - 1 Mariella Simon
?/. - c.2051A>C r.(?) p.(Tyr684Ser) Unknown - VUS g.158408093A>C g.158690304A>C GFM1(NM_024996.5):c.2051A>C (p.(Tyr684Ser)) - GFM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2182C>G r.(?) p.(Gln728Glu) Unknown - VUS g.158409182C>G - GFM1(NM_024996.7):c.2182C>G (p.(Gln728Glu)) - GFM1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6C>T r.(=) p.(=) Unknown - benign g.158409262C>T g.158691473C>T GFM1(NM_024996.7):c.*6C>T - GFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6C>T r.(=) p.(=) Unknown - benign g.158409262C>T - GFM1(NM_024996.7):c.*6C>T - GFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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