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NM_003140.3(SRY):c.317A>T (p.Lys106Ile) AND 46,XY sex reversal 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1993
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:
RCV000010396.4

Allele description [Variation Report for NM_003140.3(SRY):c.317A>T (p.Lys106Ile)]

NM_003140.3(SRY):c.317A>T (p.Lys106Ile)

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.317A>T (p.Lys106Ile)
HGVS:
  • NC_000024.10:g.2787287T>A
  • NG_011751.1:g.5465A>T
  • NM_003140.3:c.317A>TMANE SELECT
  • NP_003131.1:p.Lys106Ile
  • NC_000024.9:g.2655328T>A
  • Q05066:p.Lys106Ile
Protein change:
K106I; LYS106ILE
Links:
UniProtKB: Q05066#VAR_003728; OMIM: 480000.0007; dbSNP: rs104894964
NCBI 1000 Genomes Browser:
rs104894964
Molecular consequence:
  • NM_003140.3:c.317A>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030622OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1993)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.

Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, Perlman EJ.

Medicine (Baltimore). 1991 Nov;70(6):375-83.

PubMed [citation]
PMID:
1956279

Mutational analysis of SRY in XY females.

Hawkins JR.

Hum Mutat. 1993;2(5):347-50. Review.

PubMed [citation]
PMID:
8257986

Details of each submission

From OMIM, SCV000030622.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In their 'patient 207' (patient 5 of Berkovitz et al., 1991) with complete gonadal dysgenesis and a 46,XY karyotype (SRXY1; 400044), Hawkins et al. (1992) identified an A-T transversion at nucleotide 727, resulting in a lysine-to-isoleucine substitution within the HMG box.

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

Last Updated: Apr 23, 2022