Total 6 pathogenic variants reported for Bannayan-Riley-Ruvalcaba syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	SNV Germline	Chr10:87960952	Pathogenic/Likely pathogenic	Cowden syndrome 1 Macrocephaly-autism syndrome Bannayan-Riley-Ruvalcaba syndrome 7 conditions Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279050	rs_863224909	4 SubmittersRCV000200784 RCV000763222 RCV004020478 RCV005090018
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	SNV Germline	Chr10:87933136	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome Autism Macrocephaly Bannayan-Riley-Ruvalcaba syndrome Glioma susceptibility 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377482302	rs_1114167656	5 SubmittersRCV000491689 RCV001206307 RCV003233651 RCV004568615 RCV005431704
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	SNV Germline	Chr10:87933061	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Glioma susceptibility 2 Familial meningioma Familial prostate cancer Glioma susceptibility 2 Cowden syndrome 1 Macrocephaly-autism syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482139	rs_1339631701	8 SubmittersRCV001018187 RCV001547112 RCV001055467 RCV003461368 RCV005049731 RCV003152744 RCV003987762
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	SNV Germline	Chr10:87957970	Conflicting classifications of pathogenicity	Cowden syndrome 1 Condition: not provided Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications	CA377484996	rs_1554825226	3 SubmittersRCV001374613 RCV001762656 RCV003223419