Submissions for variant NM_003977.4(AIP):c.47G>A (p.Arg16His)

gnomAD frequency: 0.00197  dbSNP: rs145047094

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000034083	SCV000373570	likely benign	Somatotroph adenoma	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV000560928	SCV000664980	likely benign	Hereditary cancer-predisposing syndrome	2021-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000893230	SCV001037150	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV001554284	SCV001775518	likely benign	Familial isolated pituitary adenoma	2021-05-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000893230	SCV001827081	likely benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19366855, 27267386, 17609395, 28255869, 29848728, 19474519, 29036195, 26963951, 26792934, 22319033, 17242703, 21348957, 27253664, 29074612, 21753072, 19794292, 25184284, 25614825, 29632148, 20457215, 17360484, 18484068, 17244780, 22915287, 26815903, 20506337, 30941100)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000893230	SCV002009990	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000560928	SCV002535446	likely benign	Hereditary cancer-predisposing syndrome	2021-05-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000893230	SCV004137037	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	AIP: BS1, BS2
GeneReviews	RCV000034083	SCV000058013	not provided	Somatotroph adenoma		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003924890	SCV004745680	likely benign	AIP-related disorder	2020-12-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).