U.S. flag

An official website of the United States government

NM_003140.3(SRY):c.305C>T (p.Thr102Ile) AND 46,XX sex reversal 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 9, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003236645.1

Allele description [Variation Report for NM_003140.3(SRY):c.305C>T (p.Thr102Ile)]

NM_003140.3(SRY):c.305C>T (p.Thr102Ile)

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.305C>T (p.Thr102Ile)
HGVS:
  • NC_000024.10:g.2787299G>A
  • NG_011751.1:g.5453C>T
  • NM_003140.3:c.305C>TMANE SELECT
  • NP_003131.1:p.Thr102Ile
  • NC_000024.9:g.2655340G>A
Protein change:
T102I
Molecular consequence:
  • NM_003140.3:c.305C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
46,XX sex reversal 1
Synonyms:
46,XX SEX REVERSAL, SRY-POSITIVE; SRY-positive 46,XX testicular disorder of sex development
Identifiers:
MONDO: MONDO:0100250; MedGen: C2748895; OMIM: 400045

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935085Eurofins-Biomnis
criteria provided, single submitter

(Accession Criteria ClinVar Biomnis)		Likely pathogenic
(Nov 9, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Eurofins-Biomnis, SCV003935085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 1, 2023