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NM_004959.5(NR5A1):c.231del (p.Met78fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 11, 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:
RCV001866528.4

Allele description [Variation Report for NM_004959.5(NR5A1):c.231del (p.Met78fs)]

NM_004959.5(NR5A1):c.231del (p.Met78fs)

Gene:
NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_004959.5(NR5A1):c.231del (p.Met78fs)
HGVS:
  • NC_000009.12:g.124503095del
  • NG_008176.1:g.9329del
  • NM_004959.5:c.231delMANE SELECT
  • NP_004950.2:p.Met78fs
  • NC_000009.11:g.127265371del
  • NC_000009.11:g.127265374del
Protein change:
M78fs
Links:
dbSNP: rs2131289701
NCBI 1000 Genomes Browser:
rs2131289701
Molecular consequence:
  • NM_004959.5:c.231del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002125581Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 11, 2021) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002125581.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NR5A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met78Cysfs*11) 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).

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

Last Updated: Sep 29, 2024