U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) AND Breast and/or ovarian cancer

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 11, 2019
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:
RCV001270952.9

Allele description [Variation Report for NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)]

NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)

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.6115G>A (p.Glu2039Lys)
HGVS:
  • NC_000011.10:g.108316030G>A
  • NG_009830.1:g.98199G>A
  • NG_054724.1:g.158803C>T
  • NM_000051.4:c.6115G>AMANE SELECT
  • NM_001330368.2:c.641-6959C>T
  • NM_001351110.2:c.*39-6959C>T
  • NM_001351834.2:c.6115G>A
  • NP_000042.3:p.Glu2039Lys
  • NP_000042.3:p.Glu2039Lys
  • NP_001338763.1:p.Glu2039Lys
  • LRG_135t1:c.6115G>A
  • LRG_135:g.98199G>A
  • LRG_135p1:p.Glu2039Lys
  • NC_000011.9:g.108186757G>A
  • NM_000051.3:c.6115G>A
Protein change:
E2039K
Links:
dbSNP: rs864622251
NCBI 1000 Genomes Browser:
rs864622251
Molecular consequence:
  • NM_001330368.2:c.641-6959C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-6959C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.6115G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001451756CZECANCA consortium
no assertion criteria provided
Likely pathogenic
(Jun 11, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451756.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024