NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) AND Oligosynaptic infertility

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000202575.1

Allele description [Variation Report for NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter)]

NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter)

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.3279T>G (p.Tyr1093Ter)

Other names:

Y710*

HGVS:

NC_000008.11:g.30846888A>C
NG_053141.1:g.71125T>G
NM_001350162.2:c.3279T>GMANE SELECT
NP_001337091.1:p.Tyr1093Ter
NC_000008.10:g.30704404A>C

Protein change:

Y1093*; TYR710TER

Links:

OMIM: 605795.0001; dbSNP: rs864309485

NCBI 1000 Genomes Browser:

rs864309485

Molecular consequence:

NM_001350162.2:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Oligosynaptic infertility (SPGF1)
Synonyms:: SPERMATOGENIC FAILURE 1; OLIGOCHIASMATIC INFERTILITY
Identifiers:: MONDO: MONDO:0009776; MedGen: C0403810; OMIM: 258150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222690	Research lab, Institute of Genetics and Molecular and Cellular Biology	criteria provided, single submitter (Submitter's publication)	Pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222690

Research lab, Institute of Genetics and Molecular and Cellular Biology

criteria provided, single submitter

(Submitter's publication)

Pathogenic

inherited

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.

Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S.

Hum Mol Genet. 2015 Oct 1;24(19):5581-8. doi: 10.1093/hmg/ddv290. Epub 2015 Jul 21.

PubMed [citation]

PMID:: 26199321

Details of each submission

From Research lab, Institute of Genetics and Molecular and Cellular Biology, SCV000222690.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

autosomal recessive form of spermatogenic failure associated with defects in meiosis

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 24, 2022

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