NM_031276.3(TEX11):c.812del (p.Lys271fs) AND Non-obstructive azoospermia

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:: RCV001580187.1

Allele description [Variation Report for NM_031276.3(TEX11):c.812del (p.Lys271fs)]

NM_031276.3(TEX11):c.812del (p.Lys271fs)

Gene:

TEX11:testis expressed 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_031276.3(TEX11):c.812del (p.Lys271fs)

HGVS:

NC_000023.11:g.70740733del
NG_012574.2:g.172986del
NM_001003811.2:c.857del
NM_031276.3:c.812delMANE SELECT
NP_001003811.1:p.Lys286fs
NP_112566.2:p.Lys271fs
NC_000023.10:g.69960583del
NM_001003811.1:c.857delA

Protein change:

K271fs

Links:

dbSNP: rs2147744889

NCBI 1000 Genomes Browser:

rs2147744889

Molecular consequence:

NM_001003811.2:c.857del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031276.3:c.812del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001809823	Andrology Department, State Key Lab of Reproductive Medicine, Nanjing Medical University See additional submitters Andrology Department, Shanghai General Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25970010, 28132688

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001809823

Andrology Department, State Key Lab of Reproductive Medicine, Nanjing Medical University

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F.

N Engl J Med. 2015 May 28;372(22):2097-107. doi: 10.1056/NEJMoa1406192. Epub 2015 May 13.

PubMed [citation]

PMID:: 25970010
PMCID:: PMC4470617

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

Li Q, Wang K.

Am J Hum Genet. 2017 Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004. Epub 2017 Jan 26.

PubMed [citation]

PMID:: 28132688
PMCID:: PMC5294755

Details of each submission

From Andrology Department, State Key Lab of Reproductive Medicine, Nanjing Medical University, SCV001809823.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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