NM_003140.2(SRY):c.284G>A (p.Gly95Glu) AND 46,XY sex reversal, type 1

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010409.4

Allele description [Variation Report for NM_003140.2(SRY):c.284G>A (p.Gly95Glu)]

NM_003140.2(SRY):c.284G>A (p.Gly95Glu)

Gene:
SRY:sex determining region Y [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Yp11.2
Genomic location:
Preferred name:
NM_003140.2(SRY):c.284G>A (p.Gly95Glu)
HGVS:
  • NC_000024.10:g.2787320C>T
  • NG_011751.1:g.5432G>A
  • NM_003140.2:c.284G>A
  • NP_003131.1:p.Gly95Glu
  • NC_000024.9:g.2655361C>T
  • NM_003140.1:c.284G>A
  • Q05066:p.Gly95Glu
Protein change:
G95E; GLY95GLU
Links:
UniProtKB: Q05066#VAR_017302; OMIM: 480000.0022; dbSNP: 104894972
NCBI 1000 Genomes Browser:
rs104894972
Molecular consequence:
  • NM_003140.2:c.284G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
46,XY sex reversal, type 1 (SRXY1)
Synonyms:
46,XY SEX REVERSAL, SRY-RELATED; SRY-related 46,XY complete gonadal dysgenesis
Identifiers:
MedGen: C2748896; Orphanet: 242; OMIM: 400044
Age of onset:
Adolescent

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030635OMIMno assertion criteria providedPathogenic
(Jun 1, 2000)
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

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.

Schäffler A, Barth N, Winkler K, Zietz B, Rümmele P, Knüchel R, Schölmerich J, Palitzsch KD.

J Clin Endocrinol Metab. 2000 Jun;85(6):2287-92.

PubMed [citation]
PMID:
10852465

Details of each submission

From OMIM, SCV000030635.3

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

Description

Schaffler et al. (2000) described a nonmosaic XY sex-reversed female with pure gonadal dysgenesis, including 46,XY karyotype, completely female external genitalia, normal mullerian ducts, absence of wolffian ducts, and streak gonads (SRXY1; 400044), who harbored a yolk-sac tumor and was referred for the assessment of primary amenorrhea. They identified a novel de novo mutation, a G-to-A transition at position 284 within the HMG box of the SRY gene, resulting in a gly95-to-glu substitution. This mutation was not detected in the patient's father or in her male sibs. The authors concluded that these data provide further evidence to support the functional importance of the putative DNA-binding activity of the SRY HMG box.

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

Last Updated: May 12, 2017