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NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) AND Familial cancer of breast

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 20, 2024
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:
RCV004589566.1

Allele description [Variation Report for NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)]

NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)

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.4606A>G (p.Lys1536Glu)
Other names:
p.K1536E:AAA>GAA
HGVS:
  • NC_000011.10:g.108292788A>G
  • NG_009830.1:g.74957A>G
  • NM_000051.4:c.4606A>GMANE SELECT
  • NM_001351834.2:c.4606A>G
  • NP_000042.3:p.Lys1536Glu
  • NP_000042.3:p.Lys1536Glu
  • NP_001338763.1:p.Lys1536Glu
  • LRG_135t1:c.4606A>G
  • LRG_135:g.74957A>G
  • LRG_135p1:p.Lys1536Glu
  • NC_000011.9:g.108163515A>G
  • NM_000051.3:c.4606A>G
  • p.K1536E
Protein change:
K1536E
Links:
dbSNP: rs587779841
NCBI 1000 Genomes Browser:
rs587779841
Molecular consequence:
  • NM_000051.4:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.4606A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005084544Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(May 20, 2024) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.

Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.

PubMed [citation]
PMID:
25085752

Details of each submission

From Myriad Genetics, Inc., SCV005084544.1

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

Description

This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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

Last Updated: Nov 24, 2024