ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) (rs397517043)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000465001 SCV000616406 benign Rasopathy 2017-04-03 reviewed by expert panel curation The filtering allele frequency of the c.531_533delGAA (p.Lys180del) variant in the KRAS gene is 0.51% for European (non-Finnish) chromosomes by the Exome Aggregation Consortium (55/64754 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx, Partners LMM internal data; GTR ID's: 21766, 26957; ClinVar SCV000061947, SCV000207865). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BA1, BP5.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038278 SCV000061947 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing p.Lys180del in exon 6 of KRAS: This variant is not expected to have clinical sig nificance because it has been identified in 0.1% (123/125888) European chromosom es by the Genome Aggregation Database (gnomAD,; dbSNP rs397517043). In addition, it was identified in one individual with featu res of Noonan syndrome who also carried a pathogenic variant in KRAS, which was sufficient to explain their phenotype, and in two parents, one whose disease sta tus was unknown and the other who was unaffected (LMM unpublished data). This va riant causes an in-frame deletion of the amino acid lysine (Lys) at position 180 . This amino acid is in a stretch of six lysine (Lys) residues.
GeneDx RCV000513996 SCV000207865 benign not provided 2016-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000465001 SCV000552099 likely benign Rasopathy 2019-11-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513996 SCV000609511 likely benign not provided 2017-07-21 criteria provided, single submitter clinical testing
ITMI RCV000038278 SCV000085499 not provided not specified 2013-09-19 no assertion provided reference population

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