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NM_004959.5(NR5A1):c.390del (p.Pro131fs) AND Premature ovarian failure 7

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:
RCV000013655.24

Allele description [Variation Report for NM_004959.5(NR5A1):c.390del (p.Pro131fs)]

NM_004959.5(NR5A1):c.390del (p.Pro131fs)

Gene:
NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_004959.5(NR5A1):c.390del (p.Pro131fs)
HGVS:
  • NC_000009.12:g.124500570del
  • NG_008176.1:g.11851del
  • NM_004959.5:c.390delMANE SELECT
  • NP_004950.2:p.Pro131fs
  • NC_000009.11:g.127262849del
  • NM_004959.4:c.390del
Note:
NCBI staff reviewed the sequence information reported in PubMed 19246354 Fig. 2 to determine the location of this deletion on the current reference sequence.
Protein change:
P131fs
Links:
OMIM: 184757.0014; dbSNP: rs606231207
NCBI 1000 Genomes Browser:
rs606231207
Molecular consequence:
  • NM_004959.5:c.390del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Premature ovarian failure 7 (POF7)
Identifiers:
MONDO: MONDO:0013065; MedGen: C2751825; OMIM: 612964

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033902OMIM
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, SCV000033902.3

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

Description

Lourenco et al. (2009) reported a French child with ambiguous external genitalia and a 46,XY karyotype who was diagnosed with a disorder of sex development (SRXY3; 612965) and was raised as a boy. After his birth, his mother took oral contraceptives for 2 years until she was 29 years old, after which her menstrual cycles did not reappear. Her diagnosis was 46,XX primary ovarian insufficiency (POF7; 612964). A heterozygous frameshift mutation, 390delG, was detected in the NR5A1 gene in both the proband and his mother. The mutation is predicted to create a premature termination at codon 295. Functional studies indicated that the mutation substantially impaired NR5A1 transactivational activity. The mutation was not detected in 350 unaffected French control subjects.

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

Last Updated: Apr 23, 2022