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NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) AND Leydig cell agenesis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 1998
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:
RCV000015479.26

Allele description [Variation Report for NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del)]

NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del)

Genes:
STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del)
HGVS:
  • NC_000002.12:g.48687970_48687975del
  • NG_008193.2:g.72769_72774del
  • NG_033050.2:g.163046_163051del
  • NM_000233.4:c.1824_1829delMANE SELECT
  • NM_001198593.2:c.3441+16290_3441+16295del
  • NP_000224.2:p.Val609_Leu610del
  • NC_000002.11:g.48915109_48915114del
Links:
OMIM: 152790.0015; dbSNP: rs2104352652
NCBI 1000 Genomes Browser:
rs2104352652
Molecular consequence:
  • NM_000233.4:c.1824_1829del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001198593.2:c.3441+16290_3441+16295del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Leydig cell agenesis
Synonyms:
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM; LEYDIG CELL HYPOPLASIA, COMPLETE; HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009384; MedGen: C0266432; OMIM: 238320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035744OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Details of each submission

From OMIM, SCV000035744.2

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

Description

Latronico et al. (1998) reported a 46,XY pseudohermaphrodite who presented with female external genitalia (238320) and his 46,XX sister who had oligoamenorrhea and infertility, and enlarged cystic ovaries (see 238320). Both affected sibs were homozygous for a deletion of nucleotides 1822-1827 (CTGGTT), resulting in the deletion of leu608 (CTG) and val609 (GTT) in the seventh transmembrane helix of the LHCGR gene. This microdeletion caused impaired expression and reduced signal transduction activity of the LHCGR.

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

Last Updated: Sep 1, 2024