NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Oct 13, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000212068.15

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]
Observations:
2

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149160GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 13, 2023) 		germlineclinical testing

Citation Link,

SCV000780405CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Likely pathogenic
(Feb 28, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000149160.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in the heterozygous state in individuals with ATM-related cancers (PMID: 27732944, 28724667, 29667044); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 25525159, 26681312, 27479817, 25122203, 27732944, 30607632, 31050087, 28724667, 12552559, 29667044, 29922827, Dorgaleleh2022[article], 35118230, 36243179, 29906526, 32826389, 35729272, 35260754, 21665257)

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

From CeGaT Center for Human Genetics Tuebingen, SCV000780405.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 7, 2024