NM_003140.3(SRY):c.178G>C (p.Val60Leu) AND 46,XY sex reversal 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1992
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:: RCV000010392.4

Allele description [Variation Report for NM_003140.3(SRY):c.178G>C (p.Val60Leu)]

NM_003140.3(SRY):c.178G>C (p.Val60Leu)

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.178G>C (p.Val60Leu)

HGVS:

NC_000024.10:g.2787426C>G
NG_011751.1:g.5326G>C
NM_003140.3:c.178G>CMANE SELECT
NP_003131.1:p.Val60Leu
NC_000024.9:g.2655467C>G
NM_003140.1:c.178G>C
Q05066:p.Val60Leu

Protein change:

V60L; VAL60LEU

Links:

UniProtKB: Q05066#VAR_003719; OMIM: 480000.0004; dbSNP: rs104894957

NCBI 1000 Genomes Browser:

rs104894957

Molecular consequence:

NM_003140.3:c.178G>C - 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
SCV000030618	OMIM	no assertion criteria provided	Pathogenic (May 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030618

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1992)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M.

Am J Hum Genet. 1992 May;50(5):1008-11.

PubMed [citation]

PMID:: 1570829
PMCID:: PMC1682588

Details of each submission

From OMIM, SCV000030618.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Vilain et al. (1992) described a family in which all 5 XY individuals in 2 generations had a single basepair substitution resulting in an amino acid change in the conserved domain of the SRY open reading frame. A G-to-C transversion at nucleotide 588 resulted in substitution of leucine for valine-60. Three of the individuals were XY sex-reversed females (SRXY1; 400044) and 2 were XY males. One of the males had 8 children; all were phenotypic females, including 2 who were sex-reversed XY females carrying the mutation mentioned. Several models were proposed to explain association between a sequence variant in SRY and 2 alternative sex phenotypes. These explanations included the existence of alleles at an unlinked locus.

#	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: Feb 7, 2023

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