NM_000051.4(ATM):c.6177dup (p.Arg2060fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 8, 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:: RCV002352404.10

Allele description [Variation Report for NM_000051.4(ATM):c.6177dup (p.Arg2060fs)]

NM_000051.4(ATM):c.6177dup (p.Arg2060fs)

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.6177dup (p.Arg2060fs)

HGVS:

NC_000011.10:g.108316092dup
NG_009830.1:g.98261dup
NG_054724.1:g.158741dup
NM_000051.4:c.6177dupMANE SELECT
NM_001330368.2:c.641-7021dup
NM_001351110.2:c.*39-7021dup
NM_001351834.2:c.6177dup
NP_000042.3:p.Arg2060Thrfs
NP_000042.3:p.Arg2060fs
NP_001338763.1:p.Arg2060fs
LRG_135t1:c.6177dup
LRG_135:g.98261dup
LRG_135p1:p.Arg2060Thrfs
NC_000011.9:g.108186818_108186819insA
NC_000011.9:g.108186819dup
NM_000051.3:c.6177dup
NM_000051.3:c.6177dupA

Protein change:

R2060fs

Links:

dbSNP: rs1591779373

NCBI 1000 Genomes Browser:

rs1591779373

Molecular consequence:

NM_000051.4:c.6177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.6177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-7021dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-7021dup - 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

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Nitella hyalina ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (r...
Nitella hyalina ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|2572827171|gb|OR188694.1|

Nucleotide
RecName: Full=Centrosomal protein of 57 kDa; Short=Cep57; AltName: Full=Testis-s...
RecName: Full=Centrosomal protein of 57 kDa; Short=Cep57; AltName: Full=Testis-specific protein 57; AltName: Full=Translokin
gi|56748778|sp|Q8CEE0.2|CEP57_MOUSE

Protein
Alcohol Dehydrogenase
Alcohol Dehydrogenase
A zinc-containing enzyme which oxidizes primary and secondary alcohols or hemiacetals in the presence of NAD. In alcoholic fermentation, it catalyzes the final step of reducin...<br/>Year introduced: 1987

MeSH
Pretibial myxedema
Pretibial myxedema

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002655812	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 8, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002655812

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 8, 2024)

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, SCV002655812.3

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

Description

The c.6177dupA pathogenic mutation, located in coding exon 41 of the ATM gene, results from a duplication of A at nucleotide position 6177, causing a translational frameshift with a predicted alternate stop codon (p.R2060Tfs*28). 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: Oct 26, 2024

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