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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030622	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1956279, 8257986

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030622

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1993)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

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

Last Updated: Apr 23, 2022

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