NM_000051.4(ATM):c.7929delA (p.Gly2644fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 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:: RCV004023164.1

Allele description [Variation Report for NM_000051.4(ATM):c.7929delA (p.Gly2644fs)]

NM_000051.4(ATM):c.7929delA (p.Gly2644fs)

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.7929delA (p.Gly2644fs)

HGVS:

NC_000011.10:g.108333887del
NG_009830.1:g.116056del
NG_054724.1:g.140947del
NM_000051.4:c.7929delAMANE SELECT
NM_001330368.2:c.641-24815del
NM_001351110.2:c.*38+1334del
NM_001351834.2:c.7929delA
NP_000042.3:p.Gly2644Alafs
NP_000042.3:p.Gly2644fs
NP_001338763.1:p.Gly2644fs
LRG_135t1:c.7929del
LRG_135:g.116056del
NC_000011.9:g.108204613del
NC_000011.9:g.108204614del
NM_000051.3:c.7929del
NM_000051.3:c.7929delA

Protein change:

G2644fs

Links:

dbSNP: rs1064795550

NCBI 1000 Genomes Browser:

rs1064795550

Molecular consequence:

NM_000051.4:c.7929delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.7929delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-24815del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+1334del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004931632	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 1, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004931632

Myriad Genetics, Inc.

criteria provided, single submitter

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

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004931632.1

#	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: Nov 10, 2024

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