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NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 11, 2020
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:
RCV001270929.11

Allele description [Variation Report for NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)]

NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)

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.5932G>T (p.Glu1978Ter)
Other names:
p.E1978*:GAA>TAA
HGVS:
  • NC_000011.10:g.108312424G>T
  • NG_009830.1:g.94593G>T
  • NG_054724.1:g.162409C>A
  • NM_000051.4:c.5932G>TMANE SELECT
  • NM_001330368.2:c.641-3353C>A
  • NM_001351110.2:c.*39-3353C>A
  • NM_001351834.2:c.5932G>T
  • NP_000042.3:p.Glu1978Ter
  • NP_000042.3:p.Glu1978Ter
  • NP_001338763.1:p.Glu1978Ter
  • LRG_135t1:c.5932G>T
  • LRG_135:g.94593G>T
  • LRG_135p1:p.Glu1978Ter
  • NC_000011.9:g.108183151G>T
  • NM_000051.3:c.5932G>T
  • p.E1978*
  • p.Glu1978Stop
Protein change:
E1978*
Links:
dbSNP: rs587779852
NCBI 1000 Genomes Browser:
rs587779852
Molecular consequence:
  • NM_001330368.2:c.641-3353C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-3353C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.5932G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.5932G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451733CZECANCA consortium
no assertion criteria provided
Pathogenic
(Jun 11, 2019) 		germlineclinical testing

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

SCV002042692CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 11, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 CZECANCA consortium, SCV001451733.1

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

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002042692.1

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

Last Updated: Nov 3, 2024