NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) AND Hypergonadotropic hypogonadism

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000267125.5

Allele description [Variation Report for NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)]

NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)

Genes:

STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)

HGVS:

NC_000002.12:g.48688128C>T
NG_008193.2:g.72614G>A
NG_033050.2:g.163204C>T
NM_000233.4:c.1669G>AMANE SELECT
NM_001198593.2:c.3441+16448C>T
NP_000224.2:p.Glu557Lys
NC_000002.11:g.48915267C>T
NM_000233.3:c.1669G>A

Protein change:

E557K

Links:

dbSNP: rs146785679

NCBI 1000 Genomes Browser:

rs146785679

Molecular consequence:

NM_001198593.2:c.3441+16448C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000233.4:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypergonadotropic hypogonadism
Identifiers:: MedGen: C0948896; Human Phenotype Ontology: HP:0000815

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000431029	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000431029

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000431029.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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 1, 2024

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