NM_000051.4(ATM):c.5690del (p.Phe1897fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2018
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:: RCV001024413.3

Allele description [Variation Report for NM_000051.4(ATM):c.5690del (p.Phe1897fs)]

NM_000051.4(ATM):c.5690del (p.Phe1897fs)

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.5690del (p.Phe1897fs)

HGVS:

NC_000011.10:g.108307912del
NG_009830.1:g.90081del
NG_054724.1:g.166925del
NM_000051.4:c.5690delMANE SELECT
NM_001351834.2:c.5690del
NP_000042.3:p.Phe1897fs
NP_001338763.1:p.Phe1897fs
LRG_135t1:c.5690del
LRG_135:g.90081del
NC_000011.9:g.108178635del
NC_000011.9:g.108178639del
NM_000051.3:c.5690delT

Protein change:

F1897fs

Links:

dbSNP: rs1591731851

NCBI 1000 Genomes Browser:

rs1591731851

Molecular consequence:

NM_000051.4:c.5690del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.5690del - 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
SCV001186426	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 27, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001186426

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 27, 2018)

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, SCV001186426.4

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

Description

The c.5690delT pathogenic mutation, located in coding exon 37 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 5690, causing a translational frameshift with a predicted alternate stop codon (p.F1897Sfs*20). 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: Sep 29, 2024

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