U.S. flag

An official website of the United States government

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608338OMIM
no assertion criteria provided
Pathogenic
(Apr 10, 2023) 		germlineliterature only

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

SCV000787466SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 16, 2018) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From SIB Swiss Institute of Bioinformatics, SCV000787466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2023