NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu) AND Spermatogenic failure 25

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 30, 2022
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:: RCV003149073.1

Allele description [Variation Report for NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu)]

NM_001350162.2(TEX15):c.2441C>T (p.Pro814Leu)

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.2441C>T (p.Pro814Leu)

HGVS:

NC_000008.11:g.30847726G>A
NG_053141.1:g.70287C>T
NM_001350162.2:c.2441C>TMANE SELECT
NM_031271.3:c.1292C>T
NP_001337091.1:p.Pro814Leu
NP_112561.2:p.Pro431Leu
NC_000008.10:g.30705242G>A

Protein change:

P431L

Molecular consequence:

NM_001350162.2:c.2441C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_031271.3:c.1292C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spermatogenic failure 25
Identifiers:: MONDO: MONDO:0054729; MedGen: C4693765; OMIM: 617960

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003836548	Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 30, 2022)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003836548

Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 30, 2022)

unknown

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	unknown	no	not provided	not provided	not provided	not provided	not provided	research

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

Details of each submission

From Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh, SCV003836548.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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