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NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 2024
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:
RCV000589184.16

Allele description [Variation Report for NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)]

NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)

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.5882A>G (p.Tyr1961Cys)
Other names:
p.Y1961C:TAT>TGT
HGVS:
  • NC_000011.10:g.108310279A>G
  • NG_009830.1:g.92448A>G
  • NG_054724.1:g.164554T>C
  • NM_000051.4:c.5882A>GMANE SELECT
  • NM_001330368.2:c.641-1208T>C
  • NM_001351110.2:c.*39-1208T>C
  • NM_001351834.2:c.5882A>G
  • NP_000042.3:p.Tyr1961Cys
  • NP_000042.3:p.Tyr1961Cys
  • NP_001338763.1:p.Tyr1961Cys
  • LRG_135t1:c.5882A>G
  • LRG_135:g.92448A>G
  • LRG_135p1:p.Tyr1961Cys
  • NC_000011.9:g.108181006A>G
  • NM_000051.3:c.5882A>G
  • Q13315:p.Tyr1961Cys
  • p.Y1961C
Protein change:
Y1961C
Links:
UniProtKB: Q13315#VAR_041570; dbSNP: rs56399311
NCBI 1000 Genomes Browser:
rs56399311
Molecular consequence:
  • NM_001330368.2:c.641-1208T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-1208T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.5882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.5882A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149127GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 30, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149127.20

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

Description

Observed in individuals with breast cancer, pancreatic cancer, prostate cancer, and various forms of leukemia (PMID: 21933854, 25479140, 28779002, 28726808, 32957588, 33436325, 35672297); Published functional studies suggest a damaging effect: reduced kinase activity (PMID: 19431188); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21933854, 22529920, 9622061, 16014569, 26787654, 27720647, 25479140, 28779002, 28726808, 25741868, 28652578, 17344846, 34426522, 32957588, 31159747, 30303537, 33436325, 35672297, 19431188, 26837699, 23532176, 34262154)

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

Last Updated: Nov 30, 2024