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NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) AND Abnormal central motor function

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814060.9

Allele description [Variation Report for NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)]

NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)

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.7456C>T (p.Arg2486Ter)
Other names:
p.R2486*:CGA>TGA; p.Arg2486Ter
HGVS:
  • NC_000011.10:g.108330362C>T
  • NG_009830.1:g.112531C>T
  • NG_054724.1:g.144471G>A
  • NM_000051.4:c.7456C>TMANE SELECT
  • NM_001330368.2:c.641-21291G>A
  • NM_001351110.2:c.*38+4858G>A
  • NM_001351834.2:c.7456C>T
  • NP_000042.3:p.Arg2486Ter
  • NP_000042.3:p.Arg2486Ter
  • NP_001338763.1:p.Arg2486Ter
  • LRG_135t1:c.7456C>T
  • LRG_135:g.112531C>T
  • LRG_135p1:p.Arg2486Ter
  • NC_000011.9:g.108201089C>T
  • NM_000051.3:c.7456C>T
  • p.Arg2486Stop
  • p.R2486*
Protein change:
R2486*
Links:
dbSNP: rs587779865
NCBI 1000 Genomes Browser:
rs587779865
Molecular consequence:
  • NM_001330368.2:c.641-21291G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+4858G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7456C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.7456C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Abnormal central motor function
Identifiers:
MedGen: C4023354; Human Phenotype Ontology: HP:0011442

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755474Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2021) 		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

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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024