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NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 23, 2021
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:
RCV000217555.4

Allele description [Variation Report for NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)]

NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
HGVS:
  • NC_000011.10:g.108294952GT[1]
  • NG_009830.1:g.77121GT[1]
  • NM_000051.4:c.4804_4805delMANE SELECT
  • NM_001351834.2:c.4804_4805del
  • NP_000042.3:p.Val1602fs
  • NP_001338763.1:p.Val1602fs
  • LRG_135t1:c.4804_4805del
  • LRG_135:g.77121GT[1]
  • NC_000011.9:g.108165679GT[1]
  • NC_000011.9:g.108165679_108165680del
  • NM_000051.3:c.4804_4805del
  • NM_000051.3:c.4804_4805delGT
Protein change:
V1602fs
Links:
dbSNP: rs864622290
NCBI 1000 Genomes Browser:
rs864622290
Molecular consequence:
  • NM_000051.4:c.4804_4805del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.4804_4805del - 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
SCV000277452Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 23, 2021) 		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, SCV000277452.7

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

Description

The c.4804_4805delGT pathogenic mutation, located in coding exon 31 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 4804 to 4805, causing a translational frameshift with a predicted alternate stop codon (p.V1602Lfs*2). 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: Sep 29, 2024