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NM_000051.4(ATM):c.2817del (p.Lys940fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2023
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:
RCV000564008.5

Allele description [Variation Report for NM_000051.4(ATM):c.2817del (p.Lys940fs)]

NM_000051.4(ATM):c.2817del (p.Lys940fs)

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.2817del (p.Lys940fs)
HGVS:
  • NC_000011.10:g.108268588del
  • NG_009830.1:g.50757del
  • NM_000051.4:c.2817delMANE SELECT
  • NM_001351834.2:c.2817del
  • NP_000042.3:p.Lys940fs
  • NP_000042.3:p.Lys940fs
  • NP_001338763.1:p.Lys940fs
  • LRG_135t1:c.2817del
  • LRG_135:g.50757del
  • LRG_135p1:p.Lys940fs
  • NC_000011.9:g.108139314del
  • NC_000011.9:g.108139315del
  • NM_000051.3:c.2817del
  • NM_000051.3:c.2817delC
Protein change:
K940fs
Links:
dbSNP: rs1555083435
NCBI 1000 Genomes Browser:
rs1555083435
Molecular consequence:
  • NM_000051.4:c.2817del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.2817del - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000660701Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000660701.6

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

Description

The c.2817delC pathogenic mutation, located in coding exon 17 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 2817, causing a translational frameshift with a predicted alternate stop codon (p.K940Nfs*9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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

Last Updated: Jun 17, 2024