NM_001080510.5(METTL23):c.178del (p.Glu60fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2015
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:: RCV000624747.2

Allele description [Variation Report for NM_001080510.5(METTL23):c.178del (p.Glu60fs)]

NM_001080510.5(METTL23):c.178del (p.Glu60fs)

Gene:

METTL23:methyltransferase like 23 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_001080510.5(METTL23):c.178del (p.Glu60fs)

HGVS:

NC_000017.11:g.76733071del
NG_032905.1:g.9342del
NG_041790.1:g.11242del
NM_001080510.5:c.178delMANE SELECT
NM_001206983.3:c.178del
NM_001206984.3:c.178del
NM_001206985.3:c.-24del
NM_001206986.3:c.-24del
NM_001206987.3:c.-24del
NM_001302703.2:c.178del
NM_001302704.2:c.-24del
NM_001302705.2:c.166del
NM_001378348.1:c.178del
NM_001378349.1:c.178del
NM_001378350.1:c.166del
NM_001378351.1:c.166del
NM_001378352.1:c.166del
NM_001378353.1:c.166del
NM_001378354.1:c.-24del
NP_001073979.3:p.Glu60fs
NP_001193912.1:p.Glu60fs
NP_001193913.1:p.Glu60fs
NP_001289632.1:p.Glu60fs
NP_001289634.1:p.Glu56fs
NP_001365277.1:p.Glu60fs
NP_001365278.1:p.Glu60fs
NP_001365279.1:p.Glu56fs
NP_001365280.1:p.Glu56fs
NP_001365281.1:p.Glu56fs
NP_001365282.1:p.Glu56fs
LRG_640:g.9342del
NC_000017.10:g.74729153del
NM_001206983.1:c.178delG

Protein change:

E56fs

Links:

dbSNP: rs1382444181

NCBI 1000 Genomes Browser:

rs1382444181

Molecular consequence:

NM_001206985.3:c.-24del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001206986.3:c.-24del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001206987.3:c.-24del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001302704.2:c.-24del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001378354.1:c.-24del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001080510.5:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001206983.3:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001206984.3:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001302703.2:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001302705.2:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378348.1:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378349.1:c.178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378350.1:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378351.1:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378352.1:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378353.1:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000740839	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Mar 9, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000740839

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Mar 9, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000740839.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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