PRRC2B

proline rich coiled-coil 2B, the group of Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 9:131373636-131500197

Previous symbols: [ "KIAA0515", "BAT2L", "BAT2L1" ]

Links

ENSG00000288701 ∙ NCBI:84726 ∙ OMIM:619544 ∙ HGNC:28121 ∙ Uniprot:Q5JSZ5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRRC2B gene.

• not_specified (339 variants)
• not_provided (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRRC2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013318.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	3	5
missense			319	25	2	346
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	319	27	5

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP