ClinVar Variant
WYRWOLL, Margot J., et al. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. bioRxiv, 2019, S. 803346.
Publication: https://doi.org/10.1101/803346
Description
Disclaimer
The publication [PREPRINT] Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility by Margot J. Wyrwoll,<sup>1,#</sup> Şehime G. Temel,<sup>2,#</sup> Liina Nagirnaja,<sup>3</sup> Manon S. Oud,<sup>4</sup> Alexandra M. Lopes,<sup>5,6</sup> Godfried W. van der Heijden,<sup>4,7</sup> Nadja Rotte,<sup>8</sup> Joachim Wistuba,<sup>8</sup> Marius Wöste,<sup>9</sup> Susanne Ledig,<sup>1</sup> Henrike Krenz,<sup>9</sup> Roos M. Smits,<sup>7</sup> Filipa Carvalho,<sup>10</sup> João Gonçalves,<sup>11</sup> Daniela Fietz,<sup>12</sup> Burcu Türkgenç,<sup>13</sup> Mahmut C. Ergören,<sup>14</sup> Murat Çetinkaya,<sup>15</sup> Murad Başar,<sup>16</sup> Semra Kahraman,<sup>17</sup> Adrian Pilatz,<sup>18</sup> Albrecht Röpke,<sup>1</sup> Martin Dugas,<sup>9</sup> Sabine Kliesch,<sup>19</sup> Nina Neuhaus,<sup>8</sup> GEMINI Consortium, Kenneth I. Aston,<sup>20</sup> Donald F. Conrad,<sup>3</sup> Joris A. Veltman,<sup>4,21</sup> Corinna Friedrich,<sup>1,#</sup> Frank Tüttelmann<sup>1,#,∗</sup> is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team This data table (ClinVar Variant) has been extracted from publication or supplemental material. However, the format of the table has been adjusted to the MFGA requirements, allowing for filter and sort operations on the data in the web browser. None
Pie chart of selected column
Table
CHR | GENE | LocalId | LinkingId | ReferenceSequence | Hgvs | Start | Stop | ReferenceAllele | AlternateAllele | VariantType | OuterStart | InnerStart | InnerStop | OuterStop | VariantLength | CopyNumber | ReferenceCopyNumber | Breakpoint_1 | Breakpoint_2 | CommentOnVariant | TraceOrProbeData | VariationIdentifiers | Location | AlternateDesignations | OfficialAlleleName | Url | ConditionIdType | ConditionIdValue | PreferredConditionName | ConditionCategory | ConditionUncertainty | ConditionComment | ClinicalSignificance | DateLastEvaluated | AssertionMethod | AssertionMethodCitation | ModeOfInheritance | ClinicalSignificanceCitations | CitationsOrUrlsForClinicalSignificanceWithoutDatabaseIdentifiers | CommentOnClinicalSignificance | ExplanationIfClinicalSignificanceIsOtherOrDrugResponse | DrugResponseCondition | FunctionalConsequence | CommentOnFunctionalConsequence | CollectionMethod | AlleleOrigin | AffectedStatus | StructuralVariantMethod/analysisType | ClinicalFeatures | CommentOnClinicalFeatures | DatePhenotypeWasEvaluated | Tissue | Sex | AgeRange | PopulationGroup/ethnicity | GeographicOrigin | FamilyHistory | Indication | TotalNumberOfIndividualsTested | NumberOfFamiliesTested | NumberOfIndividualsWithVariant | NumberOfChromosomesWithVariant | NumberOfFamiliesWithVariant | NumberOfFamiliesWithSegregationObserved | SecondaryFinding | Mosaicism | NumberOfHomozygotes | NumberOfSingleHeterozygotes | NumberOfCompoundHeterozygotes | NumberOfHemizygotes | EvidenceCitations | CitationsOrUrlsThatCannotBeRepresentedInEvidenceCitationsColumn | CommentOnEvidence | TestNameOrType | PlatformType | PlatformName | Method | MethodPurpose | MethodCitations | SoftwareNameAndVersion | SoftwarePurpose | TestingLaboratory | DateVariantWasReportedToSubmitter | TestingLaboratoryInterpretation | Comment | PrivateComment | Clinvaraccession | NovelOrUpdate | ReplacesClinvaraccessions |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
M1AP | c.676dup | g.74808894dup | NM_001321739.1 | c.676dup | HPO | HP:0011961 | Non-obstructive azoospermia | Likely pathogenic | 08.10.2019 | ACMG Guidelines 2015 | PMID:25741868 | research | unknown | yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
M1AP | c.949G>A | g.74802690C>T | NM_001321739.1 | c.949G>A | HPO | HP:0011961 | Non-obstructive azoospermia | Uncertain significance | 08.10.2019 | ACMG Guidelines 2015 | PMID:25741868 | research | unknown | yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
M1AP | c.1289T>C | g.74787411A>G | NM_001321739.1 | c.1289T>C | HPO | HP:0011961 | Non-obstructive azoospermia | Uncertain significance | 08.10.2019 | ACMG Guidelines 2015 | PMID:25741868 | research | unknown | yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
M1AP | c.148T>C | g.74867255A>G | NM_001321739.1 | c.148T>C | HPO | HP:0011961 | Non-obstructive azoospermia | Uncertain significance | 08.10.2019 | ACMG Guidelines 2015 | PMID:25741868 | research | unknown | yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
M1AP | c.1166C>T | g.74789459G>A | NM_001321739.1 | c.1166C>T | HPO | HP:0011961 | Non-obstructive azoospermia | Uncertain significance | 08.10.2019 | ACMG Guidelines 2015 | PMID:25741868 | research | inherited | yes |