NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) AND Seizure

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2020
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:: RCV001263302.5

Allele description [Variation Report for NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)]

NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)

HGVS:

NC_000011.10:g.108251027GA[1]
NG_009830.1:g.33196GA[1]
NM_000051.4:c.1564_1565delMANE SELECT
NM_001351834.2:c.1564_1565del
NP_000042.3:p.Glu522fs
NP_001338763.1:p.Glu522fs
LRG_135:g.33196GA[1]
NC_000011.9:g.108121753_108121754del
NC_000011.9:g.108121754GA[1]
NM_000051.3:c.1561_1562delAG
NM_000051.3:c.1564_1565delGA
NM_000051.4:c.1564_1565del
NM_000051.4:c.1564_1565delGAMANE SELECT
c.1563delAG
c.1564_1565delGA
p.E522IFS*43
p.E522IfsX43
p.Glu522IlefsTer43
p.Glu522IlefsX43

Protein change:

E522fs

Links:

dbSNP: rs587779817

NCBI 1000 Genomes Browser:

rs587779817

Molecular consequence:

NM_000051.4:c.1564_1565del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.1564_1565del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441343	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Pathogenic (Apr 7, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441343

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Pathogenic
(Apr 7, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441343.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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: Oct 13, 2024

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