NM_000051.4(ATM):c.2082del (p.Leu695fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 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:: RCV004440239.1

Allele description [Variation Report for NM_000051.4(ATM):c.2082del (p.Leu695fs)]

NM_000051.4(ATM):c.2082del (p.Leu695fs)

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.2082del (p.Leu695fs)

HGVS:

NC_000011.10:g.108253997del
NG_009830.1:g.36166del
NM_000051.4:c.2082delMANE SELECT
NM_001351834.2:c.2082del
NP_000042.3:p.Leu695Trpfs
NP_000042.3:p.Leu695fs
NP_001338763.1:p.Leu695fs
LRG_135t1:c.2082del
LRG_135:g.36166del
LRG_135p1:p.Leu695Trpfs
NC_000011.9:g.108124724del
NM_000051.3:c.2082delT

Protein change:

L695fs

Molecular consequence:

NM_000051.4:c.2082del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.2082del - frameshift variant - [Sequence Ontology: SO:0001589]

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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esv19395 (0)
BioProject
essv16437799 (0)
Identical Protein Groups
Related Structures (List) for Protein (Select 212276444) (124)
Structure
Stx11 syntaxin 11 [Rattus norvegicus]
Stx11 syntaxin 11 [Rattus norvegicus]
Gene ID:292483

Gene
Gene Links for Protein (Select 672033753) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004931701	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jan 17, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004931701

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jan 17, 2024)

unknown

clinical testing

Citation Link

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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

Details of each submission

From Myriad Genetics, Inc., SCV004931701.1

#	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 pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	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: Sep 8, 2024

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