U.S. flag

An official website of the United States government

NM_003140.3(SRY):c.274A>T (p.Lys92Ter) AND 46,XY sex reversal 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1992
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:
RCV000010403.5

Allele description [Variation Report for NM_003140.3(SRY):c.274A>T (p.Lys92Ter)]

NM_003140.3(SRY):c.274A>T (p.Lys92Ter)

Gene:
SRY:sex determining region Y [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Yp11.2
Genomic location:
Preferred name:
NM_003140.3(SRY):c.274A>T (p.Lys92Ter)
HGVS:
  • NC_000024.10:g.2787330T>A
  • NG_011751.1:g.5422A>T
  • NM_003140.3:c.274A>TMANE SELECT
  • NP_003131.1:p.Lys92Ter
  • NC_000024.9:g.2655371T>A
Protein change:
K92*; LYS92TER
Links:
OMIM: 480000.0015; dbSNP: rs104894970
NCBI 1000 Genomes Browser:
rs104894970
Molecular consequence:
  • NM_003140.3:c.274A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
46,XY sex reversal 1
Synonyms:
46,XY SEX REVERSAL, SRY-RELATED; SRY-related 46,XY complete gonadal dysgenesis
Identifiers:
MONDO: MONDO:0020712; MedGen: C2748896; Orphanet: 242; OMIM: 400044

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030629OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1992)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes 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, SCV000030629.2

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

Description

In an XY female (SRXY1; 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 testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022