Submissions for variant NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys)

dbSNP: rs1302512878

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV004570864	SCV005053887	uncertain significance	Familial cancer of breast	2024-02-16	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356804	SCV001552069	uncertain significance	Malignant tumor of breast		no assertion criteria provided	clinical testing	The PALB2 p.Glu1011Lys variant was not identified in the literature nor was it identified in dbSNP, ClinVar, LOVD 3.0, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Glu1011 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.