NM_003140.2(SRY):c.277C>T (p.Gln93Ter)

NM_003140.2(SRY):c.277C>T (p.Gln93Ter)

Variant type:
single nucleotide variant
Cytogenetic location:
Yp11.2
Genomic location:
  • ChrY:2787327 (on Assembly GRCh38)
  • ChrY:2655368 (on Assembly GRCh37)
Protein change:
Q93*
HGVS:
  • NG_011751.1:g.5425C>T
  • NM_003140.2:c.277C>T
  • NC_000024.10:g.2787327G>A
  • NC_000024.9:g.2655368G>A
  • NP_003131.1:p.Gln93Ter
  • NM_003140.1:c.277C>T
Links:
NCBI 1000 Genomes Browser:
rs104894958
Molecular consequence:
NM_003140.2:c.277C>T: nonsense [Sequence Ontology SO:0001587]

Clinical significance

NM_003140.2(SRY):c.277C>T (p.Gln93Ter)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Mar 28, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000030619

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

McElreavey et al. (1992) described an XY sex-reversed female with pure gonadal dysgenesis (400044) who harbored a de novo nonsense mutation in SRY, which resulted directly in the formation of a stop codon in the putative DNA-binding motif. A C-to-T transition at nucleotide 687 changed a glutamine codon (CAG) to a termination codon (TAG). The patient, referred to by the authors as the 'propositus,' was a phenotypic female who presented at age 20 years for primary amenorrhea. Treatment with estrogen induced menstruation and slight enlargement of the breasts which were underdeveloped. Laparotomy showed 2 streak gonads without germ cells or remnants of tubes.

Last Updated: Aug 5, 2014

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