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NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) AND Tip-toe gait

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2023
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:
RCV003318553.9

Allele description [Variation Report for NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)]

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
Other names:
p.V2716A:GTT>GCT
HGVS:
  • NC_000011.10:g.108335105T>C
  • NG_009830.1:g.117274T>C
  • NG_054724.1:g.139728A>G
  • NM_000051.4:c.8147T>CMANE SELECT
  • NM_001330368.2:c.641-26034A>G
  • NM_001351110.2:c.*38+115A>G
  • NM_001351834.2:c.8147T>C
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_001338763.1:p.Val2716Ala
  • LRG_135t1:c.8147T>C
  • LRG_135:g.117274T>C
  • LRG_135p1:p.Val2716Ala
  • NC_000011.9:g.108205832T>C
  • NM_000051.3:c.8147T>C
  • p.V2716A
Protein change:
V2716A
Links:
dbSNP: rs587782652
NCBI 1000 Genomes Browser:
rs587782652
Molecular consequence:
  • NM_001330368.2:c.641-26034A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+115A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004022483Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
no assertion criteria provided
Likely pathogenic
(Jan 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino, SCV004022483.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

Gait disorder

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024