NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) AND Non-obstructive azoospermia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 16, 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:: RCV001648494.4

Allele description [Variation Report for NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)]

NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)

Gene:

NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

Preferred name:

NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)

HGVS:

NC_000009.12:g.124500248C>T
NG_008176.1:g.12173G>A
NM_004959.5:c.712G>AMANE SELECT
NP_004950.2:p.Asp238Asn
NC_000009.11:g.127262527C>T
NM_004959.4:c.712G>A

Protein change:

D238N

Links:

dbSNP: rs780568525

NCBI 1000 Genomes Browser:

rs780568525

Molecular consequence:

NM_004959.5:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001860300	Institute of Reproductive Genetics, University of Münster	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 16, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001860300

Institute of Reproductive Genetics, University of Münster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 16, 2022)

germline

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	germline	yes	1	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 Institute of Reproductive Genetics, University of Münster, SCV001860300.3

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

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

Last Updated: Sep 29, 2024

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