Male Fertility Gene Atlas

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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

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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,#,&lowast;</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

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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