NM_014940.4(MON1B):c.*1165C>G AND Non-obstructive azoospermia

Clinical significance:Likely benign (Last evaluated: Jun 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000845248.2

Allele description [Variation Report for NM_014940.4(MON1B):c.*1165C>G]

NM_014940.4(MON1B):c.*1165C>G

Genes:
MON1B:MON1 homolog B, secretory trafficking associated [Gene - OMIM - HGNC]
SYCE1L:synaptonemal complex central element protein 1 like [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_014940.4(MON1B):c.*1165C>G
HGVS:
  • NC_000016.10:g.77199473C>G
  • NM_001129979.3:c.22C>GMANE SELECT
  • NM_001286639.2:c.*1165C>G
  • NM_001286640.2:c.*1165C>G
  • NM_001348924.2:c.22C>G
  • NM_014940.4:c.*1165C>GMANE SELECT
  • NP_001123451.1:p.Leu8Val
  • NP_001335853.1:p.Leu8Val
  • NC_000016.9:g.77233370C>G
  • NM_001129979.1:c.22C>G
Protein change:
L8V
Links:
dbSNP: rs112674196
NCBI 1000 Genomes Browser:
rs112674196
Molecular consequence:
  • NM_001286639.2:c.*1165C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001286640.2:c.*1165C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014940.4:c.*1165C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001129979.3:c.22C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348924.2:c.22C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-obstructive azoospermia
Synonyms:
Testicular azoospermia
Identifiers:
MedGen: C4021107; Human Phenotype Ontology: HP:0011961

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000987206Institute of Reproductive Genetics, University of Münstercriteria provided, single submitter
Likely benign
(Jun 7, 2020)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Latinounknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.

Araujo TF, Friedrich C, Grangeiro CHP, Martelli LR, Grzesiuk JD, Emich J, Wyrwoll MJ, Kliesch S, Simões AL, Tüttelmann F.

Andrology. 2020 Mar;8(2):434-441. doi: 10.1111/andr.12704. Epub 2019 Nov 22.

PubMed [citation]
PMID:
31479588

Details of each submission

From Institute of Reproductive Genetics, University of Münster, SCV000987206.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Latino1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 9, 2021

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