NM_000051.4(ATM):c.8010+1del AND Familial cancer of breast

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003155933.10

Allele description [Variation Report for NM_000051.4(ATM):c.8010+1del]

NM_000051.4(ATM):c.8010+1del

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.8010+1del

HGVS:

NC_000011.10:g.108333969del
NC_000011.9:g.108204695del
NG_009830.1:g.116138del
NG_054724.1:g.140865del
NM_000051.4:c.8010+1delMANE SELECT
NM_001330368.2:c.641-24897del
NM_001351110.2:c.*38+1252del
NM_001351834.2:c.8010+1del
LRG_135t1:c.8010+1del
LRG_135:g.116138del
NC_000011.9:g.108204695del
NC_000011.9:g.108204695delG
NC_000011.9:g.108204696del
NC_000011.9:g.108204696del
NM_000051.3:c.8010+1del
NM_000051.3:c.8010+1delG

Links:

dbSNP: rs876659350

NCBI 1000 Genomes Browser:

rs876659350

Molecular consequence:

NM_001330368.2:c.641-24897del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+1252del - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.8010+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001351834.2:c.8010+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002589040	BRCAlab, Lund University	no assertion criteria provided	Likely pathogenic (Aug 26, 2022)	germline	clinical testing
SCV004212109	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 19, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004931932	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Feb 1, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002589040

BRCAlab, Lund University

no assertion criteria provided

Likely pathogenic
(Aug 26, 2022)

germline

clinical testing

SCV004212109

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 19, 2023)

unknown

clinical testing

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

SCV004931932

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Feb 1, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	1	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From BRCAlab, Lund University, SCV002589040.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

From Baylor Genetics, SCV004212109.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004931932.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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