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NM_000051.4(ATM):c.2387A>T (p.Asn796Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2017
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:
RCV000564468.2

Allele description [Variation Report for NM_000051.4(ATM):c.2387A>T (p.Asn796Ile)]

NM_000051.4(ATM):c.2387A>T (p.Asn796Ile)

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.2387A>T (p.Asn796Ile)
HGVS:
  • NC_000011.10:g.108258996A>T
  • NG_009830.1:g.41165A>T
  • NM_000051.4:c.2387A>TMANE SELECT
  • NM_001351834.2:c.2387A>T
  • NP_000042.3:p.Asn796Ile
  • NP_000042.3:p.Asn796Ile
  • NP_001338763.1:p.Asn796Ile
  • LRG_135t1:c.2387A>T
  • LRG_135:g.41165A>T
  • LRG_135p1:p.Asn796Ile
  • NC_000011.9:g.108129723A>T
  • NM_000051.3:c.2387A>T
Protein change:
N796I
Links:
dbSNP: rs1555076612
NCBI 1000 Genomes Browser:
rs1555076612
Molecular consequence:
  • NM_000051.4:c.2387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2387A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000660764Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000660764.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.N796I variant (also known as c.2387A>T), located in coding exon 15 of the ATM gene, results from an A to T substitution at nucleotide position 2387. The asparagine at codon 796 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site to a small extent; however, direct evidence is unavailable. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023