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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 16, 2024
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:: RCV003984020.2

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:: Male infertility
Identifiers:: MONDO: MONDO:0005372; MedGen: C0021364; Human Phenotype Ontology: HP:0003251

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004800811	Institute of Reproductive Genetics, University of Münster	criteria provided, single submitter (Uk Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (Jan 16, 2024)	germline, not applicable	research, in vitro	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004800811

Institute of Reproductive Genetics, University of Münster

criteria provided, single submitter

(Uk Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(Jan 16, 2024)

germline, not applicable

research, in vitro

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	research
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.

Emich J, Gaikwad AS, Stallmeyer B, Fietz D, Schuppe HC, Oud MS, Kliesch S, Gromoll J, Friedrich C, Tüttelmann F.

Fertil Steril. 2023 Feb;119(2):219-228. doi: 10.1016/j.fertnstert.2022.10.032. Epub 2022 Dec 24.

PubMed [citation]

PMID:: 36572623

Details of each submission

From Institute of Reproductive Genetics, University of Münster, SCV004800811.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided
2	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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