ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn)

dbSNP: rs775501900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823600 SCV002073166 uncertain significance Immunodeficiency, common variable, 7 criteria provided, single submitter clinical testing The missense variant p.S832N in CR2 (NM_001006658.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S832N variant is observed in 1/1,13,464 (0.0009%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. For these reasons, this variant has been classified as Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001823600 SCV002262478 uncertain significance Immunodeficiency, common variable, 7 2022-08-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1339146). This variant has not been reported in the literature in individuals affected with CR2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 832 of the CR2 protein (p.Ser832Asn).
Ambry Genetics RCV002542736 SCV003578543 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2495G>A (p.S832N) alteration is located in exon 14 (coding exon 14) of the CR2 gene. This alteration results from a G to A substitution at nucleotide position 2495, causing the serine (S) at amino acid position 832 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001823600 SCV004180439 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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