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NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2022
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV002221496.3

Allele description [Variation Report for NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)]

NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
Other names:
NM_000051.3(ATM):c.3284G>A; p.Arg1095Lys
HGVS:
  • NC_000011.10:g.108272852G>A
  • NG_009830.1:g.55021G>A
  • NM_000051.4:c.3284G>AMANE SELECT
  • NM_001351834.2:c.3284G>A
  • NP_000042.3:p.Arg1095Lys
  • NP_000042.3:p.Arg1095Lys
  • NP_001338763.1:p.Arg1095Lys
  • LRG_135t1:c.3284G>A
  • LRG_135:g.55021G>A
  • LRG_135p1:p.Arg1095Lys
  • NC_000011.9:g.108143579G>A
  • NM_000051.3:c.3284G>A
  • p.R1095K
Protein change:
R1095K
Links:
dbSNP: rs587781815
NCBI 1000 Genomes Browser:
rs587781815
Molecular consequence:
  • NM_000051.4:c.3284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.3284G>A - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499273ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen hbop acmg specifications atm v1-1)		Uncertain significance
(Mar 9, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen, SCV002499273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The ATM c.3284G>A (p.Arg1095Lys) variant is at the last nucleotide of an exon and is expected to produce an NMD-prone transcript due to a nonsense or frameshifting event (PVS1_Strong). This variant has a GnomAD (v2.1.1) allele frequency of 0.0009% (NFE) which is below the ATM PM2 threshold of 0.001% (PM2_Supporting). In summary, this variant meets criteria to be classified as a variant of uncertain significance based on the ACMG/AMP criteria applied as specified by the HBOP Variant Curation Expert Panel.

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

Last Updated: Sep 29, 2024