ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn)

gnomAD frequency: 0.00002  dbSNP: rs1240549356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979217 SCV002252699 uncertain significance Immunodeficiency, common variable, 7 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 711 of the CR2 protein (p.Ser711Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1464821). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002569222 SCV003627072 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.2132G>A (p.S711N) alteration is located in exon 11 (coding exon 11) of the CR2 gene. This alteration results from a G to A substitution at nucleotide position 2132, causing the serine (S) at amino acid position 711 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001979217 SCV004180434 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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