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NM_000051.4(ATM):c.7834del (p.Arg2612fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2015
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:
RCV002411907.9

Allele description [Variation Report for NM_000051.4(ATM):c.7834del (p.Arg2612fs)]

NM_000051.4(ATM):c.7834del (p.Arg2612fs)

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.7834del (p.Arg2612fs)
HGVS:
  • NC_000011.10:g.108332807del
  • NG_009830.1:g.114976del
  • NG_054724.1:g.142026del
  • NM_000051.4:c.7834delMANE SELECT
  • NM_001330368.2:c.641-23736del
  • NM_001351110.2:c.*38+2413del
  • NM_001351834.2:c.7834del
  • NP_000042.3:p.Arg2612Glyfs
  • NP_000042.3:p.Arg2612fs
  • NP_001338763.1:p.Arg2612fs
  • LRG_135t1:c.7834del
  • LRG_135:g.114976del
  • NC_000011.9:g.108203534del
  • NM_000051.3:c.7834del
  • NM_000051.3:c.7834delA
Protein change:
R2612fs
Links:
dbSNP: rs2086411154
NCBI 1000 Genomes Browser:
rs2086411154
Molecular consequence:
  • NM_000051.4:c.7834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.7834del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-23736del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+2413del - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002669267Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 19, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002669267.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.7834delA pathogenic mutation, located in coding exon 52 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 7834, 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024