NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) AND Tip-toe gait

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2022
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:: RCV002051809.6

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]

Condition(s)

Name:: Tip-toe gait
Synonyms:: Toe walking
Identifiers:: MedGen: C0427144; Human Phenotype Ontology: HP:0030051

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002319223	Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 15, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 37091313, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002319223

Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 15, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.

Pomarino D, Emelina A, Heidrich J, Rostásy K, Schirmer S, Schönfeldt JO, Thren A, Wagner F, Thren JR, Berger N.

Glob Med Genet. 2023 Jun;10(2):63-71. doi: 10.1055/s-0043-57230.

PubMed [citation]

PMID:: 37091313
PMCID:: PMC10121371

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 Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino, SCV002319223.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Gait disorder

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

Last Updated: Nov 3, 2024

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