NM_000051.4(ATM):c.7943del (p.Pro2648fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 6, 2022
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:: RCV002416835.9

Allele description [Variation Report for NM_000051.4(ATM):c.7943del (p.Pro2648fs)]

NM_000051.4(ATM):c.7943del (p.Pro2648fs)

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.7943del (p.Pro2648fs)

HGVS:

NC_000011.10:g.108333901del
NG_009830.1:g.116070del
NG_054724.1:g.140933del
NM_000051.4:c.7943delMANE SELECT
NM_001330368.2:c.641-24829del
NM_001351110.2:c.*38+1320del
NM_001351834.2:c.7943del
NP_000042.3:p.Pro2648Glnfs
NP_000042.3:p.Pro2648fs
NP_001338763.1:p.Pro2648fs
LRG_135t1:c.7943del
LRG_135:g.116070del
LRG_135p1:p.Pro2648Glnfs
NC_000011.9:g.108204628del
NM_000051.3:c.7943delC

Protein change:

P2648fs

Molecular consequence:

NM_000051.4:c.7943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.7943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-24829del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+1320del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002677971	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002677971

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 6, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002677971.2

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

Description

The c.7943delC pathogenic mutation, located in coding exon 53 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 7943, causing a translational frameshift with a predicted alternate stop codon (p.P2648Qfs*12). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine