U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.6572+4T>C AND Familial cancer of breast

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 7, 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:
RCV004589606.1

Allele description [Variation Report for NM_000051.4(ATM):c.6572+4T>C]

NM_000051.4(ATM):c.6572+4T>C

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.6572+4T>C
HGVS:
  • NC_000011.10:g.108321424T>C
  • NG_009830.1:g.103593T>C
  • NG_054724.1:g.153409A>G
  • NM_000051.4:c.6572+4T>CMANE SELECT
  • NM_001330368.2:c.641-12353A>G
  • NM_001351110.2:c.*39-12353A>G
  • NM_001351834.2:c.6572+4T>C
  • LRG_135t1:c.6572+4T>C
  • LRG_135:g.103593T>C
  • NC_000011.9:g.108192151T>C
  • NM_000051.3:c.6572+4T>C
Links:
dbSNP: rs587780636
NCBI 1000 Genomes Browser:
rs587780636
Molecular consequence:
  • NM_000051.4:c.6572+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-12353A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-12353A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.6572+4T>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005084805Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(Jun 7, 2024) 		unknownclinical testing

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

Citation Link

Help

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., SCV005084805.1

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

Description

This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. 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