NM_001040274.3(SYCP2L):c.999A>G (p.Ile333Met) AND Premature ovarian failure 24

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2024
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:: RCV004557229.1

Allele description [Variation Report for NM_001040274.3(SYCP2L):c.999A>G (p.Ile333Met)]

NM_001040274.3(SYCP2L):c.999A>G (p.Ile333Met)

Gene:

SYCP2L:synaptonemal complex protein 2 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.2

Genomic location:

Preferred name:

NM_001040274.3(SYCP2L):c.999A>G (p.Ile333Met)

HGVS:

NC_000006.12:g.10912753A>G
NM_001040274.3:c.999A>GMANE SELECT
NP_001035364.2:p.Ile333Met
NC_000006.11:g.10912986A>G

Protein change:

I333M; ILE333MET

Links:

OMIM: 616799.0002

Molecular consequence:

NM_001040274.3:c.999A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Premature ovarian failure 24
Identifiers:: MONDO: MONDO:0970995; MedGen: C5935624; OMIM: 620840

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005046416	OMIM	no assertion criteria provided	Pathogenic (May 28, 2024)	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

SCV005046416

OMIM

no assertion criteria provided

Pathogenic
(May 28, 2024)

germline

literature only

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

Help

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

Homozygous variants in SYCP2L cause premature ovarian insufficiency.

He WB, Tan C, Zhang YX, Meng LL, Gong F, Lu GX, Lin G, Du J, Tan YQ.

J Med Genet. 2021 Mar;58(3):168-172. doi: 10.1136/jmedgenet-2019-106789. Epub 2020 Apr 17.

PubMed [citation]

PMID:: 32303603
PMCID:: PMC7907585

Details of each submission

From OMIM, SCV005046416.1

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

Description

In a 31-year-old Chinese woman (P0005) with premature ovarian failure (POF24; 620840), He et al. (2021) identified homozygosity for a c.999A-G transition (c.999A-G, NM_001040274) in the SYCP2L gene, resulting in an ile333-to-met (I333M) substitution at a highly conserved residue. Sanger sequencing confirmed the mutation, which was present in heterozygosity in the proband's first-cousin parents and a fertile sister. Immunofluorescence analysis of transfected CHO cells demonstrated mislocalization of the mutant protein, which was not specifically localized at the centromeres.

#	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: Nov 24, 2024

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