NM_152513.4(MEI1):c.2303G>A (p.Gly768Asp) AND MEI1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 28, 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:: RCV003916006.2

Allele description [Variation Report for NM_152513.4(MEI1):c.2303G>A (p.Gly768Asp)]

NM_152513.4(MEI1):c.2303G>A (p.Gly768Asp)

Gene:

MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_152513.4(MEI1):c.2303G>A (p.Gly768Asp)

HGVS:

NC_000022.11:g.41770720G>A
NM_152513.4:c.2303G>AMANE SELECT
NP_689726.3:p.Gly768Asp
NC_000022.10:g.42166724G>A
NM_152513.3:c.2303G>A

Protein change:

G768D

Links:

dbSNP: rs61737623

NCBI 1000 Genomes Browser:

rs61737623

Molecular consequence:

NM_152513.4:c.2303G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MEI1-related disorder
Synonyms:: MEI1-related condition
Identifiers:

Recent activity

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ribosomal protein L4 (chloroplast) [Silvetia siliquosa]
ribosomal protein L4 (chloroplast) [Silvetia siliquosa]
gi|2214679129|ref|YP_010317842.1|

Protein
SAMN07498976 (1)
SRA
Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, c...
Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, clone:A230009I19 product:hypothetical protein, full insert sequence
gi|26086528|dbj|AK038431.1|

Nucleotide
Mus musculus MRG/MORF4L binding protein (Mrgbp), transcript variant 2, mRNA
Mus musculus MRG/MORF4L binding protein (Mrgbp), transcript variant 2, mRNA
gi|1251770367|ref|NM_001356494.1|

Nucleotide
neuroligin-1 isoform X1 [Rattus norvegicus]
neuroligin-1 isoform X1 [Rattus norvegicus]
gi|1958748754|ref|XP_038957500.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004743204	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Feb 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004743204

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Feb 28, 2019)

germline

clinical testing

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	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004743204.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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