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NM_000051.4(ATM):c.7089+1G>T AND Familial cancer of breast

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jan 30, 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:
RCV000465910.11

Allele description [Variation Report for NM_000051.4(ATM):c.7089+1G>T]

NM_000051.4(ATM):c.7089+1G>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.7089+1G>T
HGVS:
  • NC_000011.10:g.108327759G>T
  • NG_009830.1:g.109928G>T
  • NG_054724.1:g.147074C>A
  • NM_000051.4:c.7089+1G>TMANE SELECT
  • NM_001330368.2:c.641-18688C>A
  • NM_001351110.2:c.*38+7461C>A
  • NM_001351834.2:c.7089+1G>T
  • LRG_135t1:c.7089+1G>T
  • LRG_135:g.109928G>T
  • NC_000011.9:g.108198486G>T
  • NM_000051.3:c.7089+1G>T
Links:
dbSNP: rs777741666
NCBI 1000 Genomes Browser:
rs777741666
Molecular consequence:
  • NM_001330368.2:c.641-18688C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+7461C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7089+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351834.2:c.7089+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536679MVZ Praenatalmedizin und Genetik Nuernberg
no assertion criteria provided
Likely pathogenic
(Mar 1, 2017) 		unknownclinical testing

SCV004933484Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Jan 30, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Praenatalmedizin und Genetik Nuernberg, SCV000536679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

(1) rare/private variant (2) highly conserved splice-donor-site (3) multiple in silico analyses with pathogenic consent (4) relevant domains downstream of variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

From Myriad Genetics, Inc., SCV004933484.1

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

Description

This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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

Last Updated: Nov 10, 2024