Submissions for variant NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)

dbSNP: rs2137038745

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002568259	SCV003459999	uncertain significance	Ataxia-telangiectasia syndrome	2022-03-04	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2861 of the ATM protein (p.Ile2861Thr). This variant has not been reported in the literature in individuals affected with ATM-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1184266).
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	RCV001542251	SCV001759969	likely pathogenic	Multifocal breast carcinoma	2021-07-21	no assertion criteria provided	clinical testing	Diagnosis: Triple Negative Bilateral Breast Cancer Pathology: Invasive Lobular Ca IHC: ER+, PR %1, HER2(Scor2), CK+, Ecaderin- KI67:%30
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	RCV001568365	SCV001792250	likely pathogenic	Breast carcinoma	2021-08-18	no assertion criteria provided	clinical testing	Invasive Ductal Carcinoma