ClinVar Miner

Submissions for variant NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) (rs3733402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012817 SCV000033057 pathogenic Prekallikrein deficiency 2007-07-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000012817 SCV001142341 benign Prekallikrein deficiency 2020-01-06 no assertion criteria provided curation NM_000892.3:c.428G>A (Ser143Asn) in the KLKB1 gene has an allele frequency of 0.738 in African subpopulation in the gnomAD database, including 43762 homozygous events. Ser143Asn was reported as N124S according to ClinVar's annotation. Katsuda et al reported three Japanese patients with plasma prekallikrein deficiency, who harbors homozygousity of Gly104Arg and Asn124Ser in 2007. Co-segregate analysis demonstrate the proband's parents were heterozygous of Gly104Arg Asn124-Ser\Gly104Arg+ (PMID: 17598838). Considering the high frequency of this variant, we classify the variant as benign. ACMG/AMP criteria applied: BA1, BS2.

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