NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 16, 2016
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:: RCV000573604.3

Allele description [Variation Report for NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)]

NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)

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.4104_4105del (p.Ser1369fs)

HGVS:

NC_000011.10:g.108287710_108287711del
NG_009830.1:g.69879_69880del
NM_000051.4:c.4104_4105delMANE SELECT
NM_001351834.2:c.4104_4105del
NP_000042.3:p.Ser1369fs
NP_001338763.1:p.Ser1369fs
LRG_135:g.69879_69880del
NC_000011.9:g.108158435_108158436del
NC_000011.9:g.108158437_108158438del
NM_000051.3:c.4104_4105delTT
NM_000051.4:c.4104_4105del

Protein change:

S1369fs

Links:

dbSNP: rs879254189

NCBI 1000 Genomes Browser:

rs879254189

Molecular consequence:

NM_000051.4:c.4104_4105del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.4104_4105del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000672662	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 16, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000672662

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 16, 2016)

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, SCV000672662.5

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

Description

The c.4104_4105delTT pathogenic mutation, located in coding exon 26 of the ATM gene, results from a deletion of two nucleotides between nucleotide positions 4104 and 4105, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: Sep 29, 2024

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