NM_000051.4(ATM):c.7928-6A>T AND Familial cancer of breast

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 17, 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:
RCV004591254.1

Allele description [Variation Report for NM_000051.4(ATM):c.7928-6A>T]

NM_000051.4(ATM):c.7928-6A>T

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.7928-6A>T
HGVS:
  • NC_000011.10:g.108333880A>T
  • NG_009830.1:g.116049A>T
  • NG_054724.1:g.140953T>A
  • NM_000051.4:c.7928-6A>TMANE SELECT
  • NM_001330368.2:c.641-24809T>A
  • NM_001351110.2:c.*38+1340T>A
  • NM_001351834.2:c.7928-6A>T
  • LRG_135t1:c.7928-6A>T
  • LRG_135:g.116049A>T
  • NC_000011.9:g.108204607A>T
  • NM_000051.3:c.7928-6A>T
Links:
dbSNP: rs373509918
NCBI 1000 Genomes Browser:
rs373509918
Molecular consequence:
  • NM_000051.4:c.7928-6A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330368.2:c.641-24809T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+1340T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351834.2:c.7928-6A>T - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005084095Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(Jun 17, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005084095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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

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

Last Updated: Nov 10, 2024