NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 28, 2021
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:: RCV001919035.4

Allele description [Variation Report for NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter)]

NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter)

Gene:

NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.3

Genomic location:

Preferred name:

NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter)

HGVS:

NC_000009.12:g.124493125G>A
NG_008176.1:g.19296C>T
NM_004959.5:c.895C>TMANE SELECT
NP_004950.2:p.Gln299Ter
NC_000009.11:g.127255404G>A

Protein change:

Q299*

Links:

dbSNP: rs1564150329

NCBI 1000 Genomes Browser:

rs1564150329

Molecular consequence:

NM_004959.5:c.895C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Oligosynaptic infertility (SPGF1)
Synonyms:: SPERMATOGENIC FAILURE 1; OLIGOCHIASMATIC INFERTILITY
Identifiers:: MONDO: MONDO:0009776; MedGen: C0403810; OMIM: 258150

Name:: 46,XY disorder of sex development
Synonyms:: 46, XY disorder of sex development (DSD)
Identifiers:: MONDO: MONDO:0020040; MedGen: C2751824

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002179052	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 28, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10369247, 11038323, 12907682, 19246354, 20887963, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002179052

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 28, 2021)

germline

clinical testing

PubMed (6)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.

Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL.

Nat Genet. 1999 Jun;22(2):125-6. No abstract available.

PubMed [citation]

PMID:: 10369247

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

Biason-Lauber A, Schoenle EJ.

Am J Hum Genet. 2000 Dec;67(6):1563-8. Epub 2000 Oct 18.

PubMed [citation]

PMID:: 11038323
PMCID:: PMC1287931

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002179052.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NR5A1-related conditions. This sequence change creates a premature translational stop signal (p.Gln299*) in the NR5A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR5A1 are known to be pathogenic (PMID: 10369247, 11038323, 12907682, 19246354, 20887963).

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

Last Updated: Sep 29, 2024

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