NM_000051.4(ATM):c.6820dup (p.Ala2274fs) AND Familial prostate cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 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:: RCV004690297.1

Allele description [Variation Report for NM_000051.4(ATM):c.6820dup (p.Ala2274fs)]

NM_000051.4(ATM):c.6820dup (p.Ala2274fs)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.6820dup (p.Ala2274fs)

HGVS:

NC_000011.10:g.108326070dup
NG_009830.1:g.108239dup
NG_054724.1:g.148765dup
NM_000051.4:c.6820dupMANE SELECT
NM_001330368.2:c.641-16997dup
NM_001351110.2:c.*38+9152dup
NM_001351834.2:c.6820dup
NP_000042.3:p.Ala2274Glyfs
NP_000042.3:p.Ala2274fs
NP_001338763.1:p.Ala2274fs
LRG_135t1:c.6820dup
LRG_135:g.108239dup
LRG_135p1:p.Ala2274Glyfs
NC_000011.9:g.108196797dup
NM_000051.3:c.6820dup
NM_000051.4:c.6820dupGMANE SELECT

Protein change:

A2274fs

Molecular consequence:

NM_000051.4:c.6820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.6820dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-16997dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+9152dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial prostate cancer
Synonyms:: Hereditary Prostate Cancer
Identifiers:: MONDO: MONDO:0700275; MedGen: C2931456; OMIM: 176807

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005185266	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (May 9, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005185266

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(May 9, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.

J Natl Cancer Inst. 2020 Apr 1;112(4):369-376. doi: 10.1093/jnci/djz124.

PubMed [citation]

PMID:: 31214711
PMCID:: PMC7156928

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005185266.1

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

Description

Variant summary: ATM c.6820dupG (p.Ala2274GlyfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251036 control chromosomes (gnomAD). c.6820dupG has been reported in the literature in at least an individual affected with Prostate Cancer (Momozawa_2020). The following publication has been ascertained in the context of this evaluation (PMID: 31214711).ClinVar contains an entry for this variant (Variation ID: 1801588). Based on the evidence outlined above, the variant was classified as pathogenic.

#	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: Jan 13, 2025

ClinVar

Relating variation to medicine