NM_003140.2(SRY):c.274A>T (p.Lys92Ter) AND 46,XY sex reversal, type 1

Clinical significance:Pathogenic (Last evaluated: May 24, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010403.3

Allele description [Variation Report for NM_003140.2(SRY):c.274A>T (p.Lys92Ter)]

Gene:
SRY:sex determining region Y [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Yp11.2
Genomic location:
Preferred name:
NM_003140.2(SRY):c.274A>T (p.Lys92Ter)
HGVS:
  • NC_000024.10:g.2787330T>A
  • NG_011751.1:g.5422A>T
  • NM_003140.2:c.274A>T
  • NP_003131.1:p.Lys92Ter
  • NC_000024.9:g.2655371T>A
  • NM_003140.1:c.274A>T
Protein change:
K92*; LYS92TER
Links:
OMIM: 480000.0015; dbSNP: 104894970
NCBI 1000 Genomes Browser:
rs104894970
Molecular consequence:
  • NM_003140.2:c.274A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
46,XY sex reversal, type 1 (SRXY1)
Synonyms:
46,XY SEX REVERSAL 1; 46,XY SEX REVERSAL, SRY-RELATED; SEX-REVERSING LOCUS ON X, INCLUDED; See all synonyms [MedGen]
Identifiers:
MedGen: C2748896; OMIM: 400044; Orphanet: 242
Age of onset:
Adolescence / Young adulthood

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000030629OMIMPathogenic
(May 24, 2013)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.

Müller J, Schwartz M, Skakkebaek NE.

J Clin Endocrinol Metab. 1992 Jul;75(1):331-3.

PubMed [citation]
PMID:
1619028

Details of each submission

From OMIM, SCV000030629.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an XY female (400044), Muller et al. (1992) identified an A-to-T transversion at codon 92 of the SRY gene which results in a stop codon at lys92. This residue lies within the HMG box.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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