NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg) AND Non-obstructive azoospermia

Clinical significance:Uncertain significance (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:
RCV001261893.1

Allele description [Variation Report for NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)]

NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)

Gene:
TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p12
Genomic location:
Preferred name:
NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)
HGVS:
  • NC_000008.11:g.30837061C>T
  • NG_053141.1:g.80952G>A
  • NM_001350162.2:c.9223G>AMANE SELECT
  • NP_001337091.1:p.Gly3075Arg
  • NC_000008.10:g.30694577C>T
  • NM_001350162.1:c.9223G>A
Protein change:
G3075R
Links:
dbSNP: rs150606321
NCBI 1000 Genomes Browser:
rs150606321
Molecular consequence:
  • NM_001350162.2:c.9223G>A - 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
SCV001439223Institute of Reproductive Genetics, University of Münstercriteria provided, single submitter
Uncertain significance
(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, SCV001439223.1

#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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