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NM_000051.4(ATM):c.713T>C (p.Ile238Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2015
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:
RCV000480166.1

Allele description [Variation Report for NM_000051.4(ATM):c.713T>C (p.Ile238Thr)]

NM_000051.4(ATM):c.713T>C (p.Ile238Thr)

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.713T>C (p.Ile238Thr)
HGVS:
  • NC_000011.10:g.108244838T>C
  • NG_009830.1:g.27007T>C
  • NM_000051.4:c.713T>CMANE SELECT
  • NM_001351834.2:c.713T>C
  • NP_000042.3:p.Ile238Thr
  • NP_000042.3:p.Ile238Thr
  • NP_001338763.1:p.Ile238Thr
  • LRG_135t1:c.713T>C
  • LRG_135:g.27007T>C
  • LRG_135p1:p.Ile238Thr
  • NC_000011.9:g.108115565T>C
  • NM_000051.3:c.713T>C
Protein change:
I238T
Links:
dbSNP: rs149116878
NCBI 1000 Genomes Browser:
rs149116878
Molecular consequence:
  • NM_000051.4:c.713T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.713T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000566051GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 26, 2015) 		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, SCV000566051.4

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

Description

This variant is denoted ATM c.713T>C at the cDNA level, p.Ile238Thr (I238T) at the protein level, and results in the change of an Isoleucine to a Threonine (ATC>ACC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ile238Thr was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Isoleucine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Ile238Thr occurs at a position that is conserved across species and is not located in a known functional domain (Tavtigian 2009). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether ATM Ile238Thr 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