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NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2019
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:
RCV002283463.8

Allele description [Variation Report for NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)]

NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
HGVS:
  • NC_000011.10:g.108365107_108365110del
  • NG_009830.1:g.147276_147279del
  • NG_054724.1:g.109725_109728del
  • NM_000051.4:c.8876_8879delMANE SELECT
  • NM_001330368.2:c.640+20812_640+20815del
  • NM_001351110.2:c.694+20812_694+20815del
  • NM_001351834.2:c.8876_8879del
  • NP_000042.3:p.Asp2959Glyfs
  • NP_000042.3:p.Asp2959fs
  • NP_001338763.1:p.Asp2959fs
  • LRG_135t1:c.8876_8879del
  • LRG_135:g.147276_147279del
  • NC_000011.9:g.108235832_108235835del
  • NC_000011.9:g.108235834_108235837del
  • NM_000051.3:c.8876_8879del
  • NM_000051.3:c.8876_8879delACTG
Protein change:
D2959fs
Links:
dbSNP: rs786204726
NCBI 1000 Genomes Browser:
rs786204726
Molecular consequence:
  • NM_000051.4:c.8876_8879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.8876_8879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.640+20812_640+20815del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.694+20812_694+20815del - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002571100Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 25, 2019)
paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA.

Hum Mutat. 2003 Jul;22(1):43-50.

PubMed [citation]
PMID:
12815592

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 Baylor Genetics, SCV002571100.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (2)

Description

This variant has been previously reported as pathogenic [PMID 12815592]. Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900], an autosomal recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

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

Last Updated: Feb 8, 2025