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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692404	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Jul 14, 2010)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692404

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Pathogenic
(Jul 14, 2010)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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