NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) AND Luteinizing hormone resistance, female

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:: RCV000015480.26

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:: Luteinizing hormone resistance, female
Identifiers:: MedGen: C3668935

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035745	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1998)	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

SCV000035745

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1998)

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

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

Latronico AC, Chai Y, Arnhold IJ, Liu X, Mendonca BB, Segaloff DL.

Mol Endocrinol. 1998 Mar;12(3):442-50.

PubMed [citation]

PMID:: 9514160

Details of each submission

From OMIM, SCV000035745.2

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

#	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: Sep 1, 2024

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