Submissions for variant NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)

gnomAD frequency: 0.00083  dbSNP: rs114513239

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000656847	SCV000150103	uncertain significance	not provided	2014-03-13	criteria provided, single submitter	clinical testing	FAM175A has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted FAM175A c.755G>A at the cDNA level, p.Arg252Gln (R252Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FAM175A Arg252Gln has been observed with an allele frequency of up to 0.1% in European Americans in the NHLBI Exome Sequencing Project. This variant is a semi-conservative substitution of a positive polar amino acid for a neutral polar one, altering a position that is highly variable throughout evolution and is located in the potential coiled-coil domain. In silico analyses predict this variant to have a benign effect on protein structure and function. At a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the FAM175A gene, remain unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000656847	SCV000291361	likely benign	not provided	2024-12-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000656847	SCV004152846	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	ABRAXAS1: BP4, BS1