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NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2023
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:
RCV003229841.8

Allele description [Variation Report for NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)]

NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)

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.8268G>T (p.Lys2756Asn)
HGVS:
  • NC_000011.10:g.108335961G>T
  • NG_009830.1:g.118130G>T
  • NG_054724.1:g.138872C>A
  • NM_000051.4:c.8268G>TMANE SELECT
  • NM_001330368.2:c.641-26890C>A
  • NM_001351110.2:c.695-669C>A
  • NM_001351834.2:c.8268G>T
  • NP_000042.3:p.Lys2756Asn
  • NP_000042.3:p.Lys2756Asn
  • NP_001338763.1:p.Lys2756Asn
  • LRG_135t1:c.8268G>T
  • LRG_135:g.118130G>T
  • LRG_135p1:p.Lys2756Asn
  • NC_000011.9:g.108206688G>T
  • NM_000051.3:c.8268G>T
Protein change:
K2756N
Links:
dbSNP: rs1555128642
NCBI 1000 Genomes Browser:
rs1555128642
Molecular consequence:
  • NM_001330368.2:c.641-26890C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.695-669C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8268G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8268G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003927773GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(May 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV003927773.1

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

Description

Alters the last nucleotide of the in-frame exon and is predicted to alter the splice donor site and result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23532176)

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

Last Updated: Feb 1, 2025