NM_005372.1(MOS):c.591T>G (p.Ile197Met) AND Oocyte/zygote/embryo maturation arrest 20

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 17, 2023
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:: RCV003228753.1

Allele description [Variation Report for NM_005372.1(MOS):c.591T>G (p.Ile197Met)]

NM_005372.1(MOS):c.591T>G (p.Ile197Met)

Gene:

MOS:MOS proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

Preferred name:

NM_005372.1(MOS):c.591T>G (p.Ile197Met)

HGVS:

NC_000008.11:g.56113392A>C
NG_114332.1:g.132A>C
NM_005372.1:c.591T>GMANE SELECT
NP_005363.1:p.Ile197Met
NC_000008.10:g.57025951A>C

Protein change:

I197M; ILE197MET

Links:

OMIM: 190060.0010

Molecular consequence:

NM_005372.1:c.591T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oocyte/zygote/embryo maturation arrest 20 (OZEMA20)
Identifiers:: MONDO: MONDO:0957278; MedGen: C5830539; OMIM: 620383

Recent activity

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MAG: Fusicatenibacter saccharivorans isolate DOME_MAG_10364, whole genome shotgu...
MAG: Fusicatenibacter saccharivorans isolate DOME_MAG_10364, whole genome shotgun sequencing project
gi|2664901511|gb|JAXIXN000000000.1| N010000000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925585	OMIM	no assertion criteria provided	Pathogenic (May 17, 2023)	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

SCV003925585

OMIM

no assertion criteria provided

Pathogenic
(May 17, 2023)

germline

literature only

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

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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

MOS mutation causes female infertility with large polar body oocytes.

Jiao G, Lian H, Xing J, Chen L, Du Z, Liu X.

Gynecol Endocrinol. 2022 Dec;38(12):1158-1163. doi: 10.1080/09513590.2022.2147158. Epub 2022 Nov 20.

PubMed [citation]

PMID:: 36403623

Details of each submission

From OMIM, SCV003925585.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 25-year-old Chinese woman with infertility due to extrusion of a large polar body 1 and embryonic arrest with fragmentation (OZEMA20; 620383), Jiao et al. (2022) identified homozygosity for a c.591T-G transversion (c.591T-G, NM_005372.1) in the MOS gene, resulting in an ile197-to-met (I197M) substitution at a highly conserved residue. Her unaffected parents were heterozygous for the mutation, which was not found in the 1000 Genomes Project or gnomAD databases.

#	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: Dec 2, 2023

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