NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs) AND Spermatogenic failure 25

Germline classification:: Pathogenic (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:: RCV003149074.2

Allele description [Variation Report for NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs)]

NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs)

Gene:

TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

8p12

Genomic location:

Preferred name:

NM_001350162.2(TEX15):c.6848_6849del (p.Arg2283fs)

HGVS:

NC_000008.11:g.30843319CT[2]
NG_053141.1:g.74690GA[2]
NM_001350162.2:c.6848_6849delMANE SELECT
NM_031271.3:c.5699_5700delGA
NP_001337091.1:p.Arg2283fs
NC_000008.10:g.30700835CT[2]
NC_000008.11:g.30843318_30843319del

Protein change:

R2283fs

Links:

dbSNP: rs550195743

NCBI 1000 Genomes Browser:

rs550195743

Molecular consequence:

NM_001350162.2:c.6848_6849del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003836550	Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (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

SCV003836550

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(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	yes	3	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, SCV003836550.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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