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NM_003140.3(SRY):c.89G>T (p.Arg30Ile) AND 46,XY sex reversal 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 14, 2010
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:
RCV000581278.1

Allele description [Variation Report for NM_003140.3(SRY):c.89G>T (p.Arg30Ile)]

NM_003140.3(SRY):c.89G>T (p.Arg30Ile)

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.89G>T (p.Arg30Ile)
HGVS:
  • NC_000024.10:g.2787515C>A
  • NG_011751.1:g.5237G>T
  • NG_050937.1:g.12C>A
  • NM_003140.3:c.89G>TMANE SELECT
  • NP_003131.1:p.Arg30Ile
  • NC_000024.9:g.2655556C>A
  • NM_003140.2:c.89G>T
Protein change:
R30I
Links:
dbSNP: rs1556370576
NCBI 1000 Genomes Browser:
rs1556370576
Molecular consequence:
  • NM_003140.3:c.89G>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692404Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Jul 14, 2010) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022