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

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 22, 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:
RCV000515323.13

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]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611165Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 10, 2022) 		unknownclinical testing

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

SCV004228579GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedmaternalphenotyping only

SCV005382120Institute of Immunology and Genetics Kaiserslautern
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 22, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedmaternalunknownnot providednot providednot providednot providednot providedclinical testing
not providedmaternalyes1not providednot provided1not providedphenotyping only

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV000611165.2

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

From GenomeConnect - Invitae Patient Insights Network, SCV004228579.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 08-07-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

From Institute of Immunology and Genetics Kaiserslautern, SCV005382120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG Criteria: PVS1, PS3, PS4, PP5; Variant was found in heterozygous state.

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

Last Updated: Nov 3, 2024