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NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) AND 46,XY sex reversal 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2007
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:
RCV000013646.24

Allele description [Variation Report for NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)]

NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)

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.271G>A (p.Gly91Ser)
HGVS:
  • NC_000009.12:g.124500689C>T
  • NG_008176.1:g.11732G>A
  • NM_004959.5:c.271G>AMANE SELECT
  • NP_004950.2:p.Gly91Ser
  • NC_000009.11:g.127262968C>T
  • Q13285:p.Gly91Ser
Protein change:
G91S; GLY91SER
Links:
UniProtKB: Q13285#VAR_063257; OMIM: 184757.0009; dbSNP: rs104894126
NCBI 1000 Genomes Browser:
rs104894126
Molecular consequence:
  • NM_004959.5:c.271G>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; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE; 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
SCV000033893OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2007) 		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

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC.

J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. Epub 2007 Jan 2.

PubMed [citation]
PMID:
17200175
PMCID:
PMC1872053

Details of each submission

From OMIM, SCV000033893.3

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

Description

In a Fijian patient with a 46,XY disorder of sex development and normal adrenal function (SRXY3; 612965), Lin et al. (2007) identified heterozygosity for a gly91-to-ser (G91S) substitution in the A-box region of SF1. At birth, clitoral enlargement and a single perineal opening were noted; gonads (testes) were palpable in the labioscrotal folds. Endocrine studies were consistent with gonadal dysgenesis/impaired androgen biosynthesis. Gonadectomy was performed at 4 months of age and the child was raised female. The mother carried the G91S mutation. See 184757.0007 and Lin et al. (2007).

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

Last Updated: Mar 22, 2025