NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 16, 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:: RCV004440262.1

Allele description [Variation Report for NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)]

NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)

HGVS:

NC_000011.10:g.108253834_108253836delinsT
NG_009830.1:g.36003_36005delinsT
NM_000051.4:c.1919_1921delinsTMANE SELECT
NM_001351834.2:c.1919_1921delinsT
NP_000042.3:p.Lys640Ilefs
NP_000042.3:p.Lys640fs
NP_001338763.1:p.Lys640fs
LRG_135t1:c.1919_1921delAAGinsT
LRG_135:g.36003_36005delinsT
LRG_135p1:p.Lys640Ilefs
NC_000011.9:g.108124561_108124563delinsT
NM_000051.3:c.1919_1921delAAGinsT

Protein change:

K640fs

Molecular consequence:

NM_000051.4:c.1919_1921delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.1919_1921delinsT - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004931768	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jan 16, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004931768

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jan 16, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004931768.1

#	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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