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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004800811Institute 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 applicableresearch, in vitro

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedresearch
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
2not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024