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NM_000051.4(ATM):c.2598T>G (p.Val866=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2014
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:
RCV000159699.4

Allele description [Variation Report for NM_000051.4(ATM):c.2598T>G (p.Val866=)]

NM_000051.4(ATM):c.2598T>G (p.Val866=)

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.2598T>G (p.Val866=)
Other names:
p.V866V:GTT>GTG
HGVS:
  • NC_000011.10:g.108267302T>G
  • NG_009830.1:g.49471T>G
  • NM_000051.4:c.2598T>GMANE SELECT
  • NM_001351834.2:c.2598T>G
  • NP_000042.3:p.Val866=
  • NP_000042.3:p.Val866=
  • NP_001338763.1:p.Val866=
  • LRG_135t1:c.2598T>G
  • LRG_135:g.49471T>G
  • LRG_135p1:p.Val866=
  • NC_000011.9:g.108138029T>G
  • NM_000051.3:c.2598T>G
Links:
dbSNP: rs730881350
NCBI 1000 Genomes Browser:
rs730881350
Molecular consequence:
  • NM_000051.4:c.2598T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351834.2:c.2598T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209709GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 2, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209709.10

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

Description

This variant is denoted ATM c.2598T>G at the DNA level. Although the variant is silent at the coding level, preserving a Valine at codon 866, it is predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM 2598T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a thymine (T) at base 2598, is moderately conserved across species with guanine (G) being the naturally occurring amino acid in other mammals. Based on currently available information, it is unclear whether ATM 2598T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024