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NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) AND 46,XY sex reversal 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000013652.24

Allele description [Variation Report for NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)]

NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)
HGVS:
  • NC_000009.12:g.124503393C>T
  • NG_008176.1:g.9028G>A
  • NG_051350.1:g.26C>T
  • NM_004959.5:c.3G>AMANE SELECT
  • NP_004950.2:p.Met1Ile
  • NC_000009.11:g.127265672C>T
Protein change:
M1I; MET1ILE
Links:
OMIM: 184757.0013; dbSNP: rs121918656
NCBI 1000 Genomes Browser:
rs121918656
Molecular consequence:
  • NM_004959.5:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_004959.5:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
46,XY sex reversal 3
Synonyms:
SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED; NR5A1-Related 46,XY CGD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013066; MedGen: C3489793; OMIM: 612965

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033899OMIM
no assertion criteria provided
Pathogenic
(Mar 19, 2009) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.

N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.

PubMed [citation]
PMID:
19246354
PMCID:
PMC2778147

Details of each submission

From OMIM, SCV000033899.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Lourenco et al. (2009) reported a French child who presented at the age of 12 years with signs of virilization and was diagnosed with 46,XY partial gonadal dysgenesis (SRXY3; 612965). A sister of the proband presented at the age of 16 years with secondary amenorrhea and was diagnosed with 46,XX primary ovarian insufficiency (POF7; 612964). The mother was 46 years of age, and menstruation was reportedly normal. The 2 affected sibs and the mother carried a heterozygous 3G-A transition in the first codon of the NR5A1 gene that predicts a met1-to-ile (M1I) substitution. Functional studies indicated that the mutation substantially impaired NR5A1 transactivational activity. An unaffected sib and the father did not have the mutation. The mutation was not found in 350 unaffected French control subjects.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023