NM_006667.5(PGRMC1):c.418G>C (p.Asp140His) AND Genetic non-acquired premature ovarian failure

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2019
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:: RCV001661776.1

Allele description [Variation Report for NM_006667.5(PGRMC1):c.418G>C (p.Asp140His)]

NM_006667.5(PGRMC1):c.418G>C (p.Asp140His)

Gene:

PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

NM_006667.5(PGRMC1):c.418G>C (p.Asp140His)

HGVS:

NC_000023.11:g.119240398G>C
NG_016756.1:g.9151G>C
NM_001282621.2:c.329-2753G>C
NM_006667.5:c.418G>CMANE SELECT
NP_006658.1:p.Asp140His
NC_000023.10:g.118374361G>C

Protein change:

D140H

Links:

dbSNP: rs1334781963

NCBI 1000 Genomes Browser:

rs1334781963

Molecular consequence:

NM_001282621.2:c.329-2753G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_006667.5:c.418G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Genetic non-acquired premature ovarian failure
Identifiers:: MedGen: C5816691

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001877141	Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University	no assertion criteria provided	Likely pathogenic (Oct 1, 2019)	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001877141

Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University

no assertion criteria provided

Likely pathogenic
(Oct 1, 2019)

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, SCV001877141.1

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

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

Last Updated: Dec 24, 2023

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