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NM_000051.4(ATM):c.6082del (p.Gln2028fs) AND Familial cancer of breast

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 9, 2022
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:
RCV002467452.10

Allele description [Variation Report for NM_000051.4(ATM):c.6082del (p.Gln2028fs)]

NM_000051.4(ATM):c.6082del (p.Gln2028fs)

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.6082del (p.Gln2028fs)
Other names:
p.Gln2028AsnfsTer19
HGVS:
  • NC_000011.10:g.108315898del
  • NG_009830.1:g.98067del
  • NG_054724.1:g.158935del
  • NM_000051.4:c.6082delMANE SELECT
  • NM_001330368.2:c.641-6827del
  • NM_001351110.2:c.*39-6827del
  • NM_001351834.2:c.6082del
  • NP_000042.3:p.Gln2028Asnfs
  • NP_000042.3:p.Gln2028fs
  • NP_001338763.1:p.Gln2028fs
  • LRG_135t1:c.6082del
  • LRG_135:g.98067del
  • NC_000011.9:g.108186625del
  • NM_000051.3:c.6082del
  • NM_000051.3:c.6082delC
Protein change:
Q2028fs
Links:
dbSNP: rs1565499093
NCBI 1000 Genomes Browser:
rs1565499093
Molecular consequence:
  • NM_000051.4:c.6082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.6082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-6827del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-6827del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Familial cancer of breast
Synonyms:
BREAST CANCER, FAMILIAL; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002588944BRCAlab, Lund University
no assertion criteria provided
Pathogenic
(Aug 26, 2022)
germlineclinical testing

SCV002762778Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 9, 2022)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot provided1not providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedresearch

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 BRCAlab, Lund University, SCV002588944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot provided1not provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV002762778.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PVS1, PM2_SUP, PM3_SUP

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

Last Updated: Feb 8, 2025