NM_000051.4(ATM):c.2467-2A>C AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic (Last evaluated: Apr 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000583860.3

Allele description [Variation Report for NM_000051.4(ATM):c.2467-2A>C]

NM_000051.4(ATM):c.2467-2A>C

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.2467-2A>C
HGVS:
  • NC_000011.10:g.108267169A>C
  • NG_009830.1:g.49338A>C
  • NM_000051.3:c.2467-2A>C
  • NM_000051.4:c.2467-2A>CMANE SELECT
  • NM_001351834.2:c.2467-2A>C
  • LRG_135t1:c.2467-2A>C
  • LRG_135:g.49338A>C
  • NC_000011.9:g.108137896A>C
Links:
dbSNP: rs1555082050
NCBI 1000 Genomes Browser:
rs1555082050
Molecular consequence:
  • NM_000051.3:c.2467-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000051.4:c.2467-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351834.2:c.2467-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000687389Color Health, Inccriteria provided, single submitter
Likely pathogenic
(Apr 21, 2020)
germlineclinical testing

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

Description

This variant causes an A to C nucleotide substitution at the -2 position of intron 16 of the ATM gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.

SCV000687389

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000687389.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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