NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter) AND Familial cancer of breast

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 16, 2023
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:: RCV003466652.1

Allele description [Variation Report for NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)]

NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)

HGVS:

NC_000011.10:g.108319977dup
NG_009830.1:g.102146dup
NG_054724.1:g.154856dup
NM_000051.4:c.6371dupMANE SELECT
NM_001330368.2:c.641-10906dup
NM_001351110.2:c.*39-10906dup
NM_001351834.2:c.6371dup
NP_000042.3:p.Tyr2124Ter
NP_000042.3:p.Tyr2124Terfs
NP_001338763.1:p.Tyr2124Ter
LRG_135t1:c.6371dup
LRG_135:g.102146dup
LRG_135p1:p.Tyr2124Terfs
NC_000011.9:g.108190704dup
NM_000051.3:c.6371dup

Protein change:

Y2124*

Molecular consequence:

NM_001330368.2:c.641-10906dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-10906dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.6371dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001351834.2:c.6371dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004212089	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 16, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004212089

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 16, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 Baylor Genetics, SCV004212089.1

#	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

Last Updated: Oct 26, 2024

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