NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr) AND Oocyte maturation defect 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 16, 2018
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:: RCV000512631.3

Allele description [Variation Report for NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)]

NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)

Gene:

PATL2:PAT1 homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)

Other names:

NM_001145112.1:c.953T>C(p.Ile318Thr)

HGVS:

NC_000015.10:g.44669391A>G
NM_001145112.2:c.953T>C
NM_001330283.2:c.386T>C
NM_001387260.1:c.860T>C
NM_001387261.1:c.953T>C
NM_001387262.1:c.953T>C
NM_001387263.1:c.953T>CMANE SELECT
NM_001387264.1:c.860T>C
NP_001138584.1:p.Ile318Thr
NP_001138584.1:p.Ile318Thr
NP_001317212.1:p.Ile129Thr
NP_001374189.1:p.Ile287Thr
NP_001374190.1:p.Ile318Thr
NP_001374191.1:p.Ile318Thr
NP_001374192.1:p.Ile318Thr
NP_001374193.1:p.Ile287Thr
NC_000015.9:g.44961589A>G
NM_001145112.1:c.953T>C

Protein change:

I129T; ILE318THR

Links:

OMIM: 614661.0008; dbSNP: rs1011539285

NCBI 1000 Genomes Browser:

rs1011539285

Molecular consequence:

NM_001145112.2:c.953T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330283.2:c.386T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387260.1:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387261.1:c.953T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387262.1:c.953T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387263.1:c.953T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387264.1:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oocyte maturation defect 4
Synonyms:: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4
Identifiers:: MONDO: MONDO:0021575; MedGen: C4540284; OMIM: 617743

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000608338	OMIM	no assertion criteria provided	Pathogenic (Apr 10, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000787466	SIB Swiss Institute of Bioinformatics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 16, 2018)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 28965849, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000608338

OMIM

no assertion criteria provided

Pathogenic
(Apr 10, 2023)

germline

literature only

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

SCV000787466

SIB Swiss Institute of Bioinformatics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 16, 2018)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Help

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	curation
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L.

Am J Hum Genet. 2017 Oct 5;101(4):609-615. doi: 10.1016/j.ajhg.2017.08.018. Epub 2017 Sep 28.

PubMed [citation]

PMID:: 28965849
PMCID:: PMC5630194

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000608338.2

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

Description

For discussion of the c.953T-C transition (c.953T-C, NM_001145112.1) in exon 11 of the PATL2 gene, resulting in an ile318-to-thr (I318T) substitution, that was found in compound heterozygous state in a Chinese woman (family 3) with infertility due to oocyte maturation arrest (OZEMA4; 617743) by Chen et al. (2017), see 614661.0007.

#	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

From SIB Swiss Institute of Bioinformatics, SCV000787466.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

This variant is interpreted as a Uncertain Significance, for Oocyte maturation defect 4, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:28965849).

#	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: Apr 15, 2023

ClinVar

Relating variation to medicine