PRRC2B

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

Basic information

Region (hg38): 9:131373635-131500197

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	4	6
missense			147	13	5	165
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	147	15	10

Variants in PRRC2B

This is a list of pathogenic ClinVar variants found in the PRRC2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-131432632-G-A		not specified	Uncertain significance (Mar 27, 2023)
9-131432676-C-T		not specified	Uncertain significance (Dec 21, 2023)
9-131432677-C-T		not specified	Uncertain significance (Feb 23, 2023)
9-131432716-G-C		not specified	Uncertain significance (Sep 16, 2021)
9-131432730-A-G		not specified	Uncertain significance (Nov 09, 2021)
9-131432739-G-A			Likely benign (May 01, 2023)
9-131436625-G-C		not specified	Uncertain significance (Mar 04, 2024)
9-131436658-C-T		not specified	Uncertain significance (Jun 22, 2021)
9-131436700-C-T		not specified	Uncertain significance (Feb 13, 2024)
9-131444211-T-G		not specified	Uncertain significance (Aug 02, 2021)
9-131444283-G-A		not specified	Uncertain significance (Mar 01, 2024)
9-131446436-A-C		not specified	Uncertain significance (Dec 06, 2021)
9-131446436-A-G		not specified	Uncertain significance (Jun 29, 2022)
9-131446479-G-A		not specified	Uncertain significance (Jul 06, 2021)
9-131446482-G-A		not specified	Uncertain significance (Apr 22, 2024)
9-131446497-C-T		not specified	Uncertain significance (Sep 27, 2021)
9-131446532-G-A			Likely benign (Jan 01, 2024)
9-131446557-C-T		not specified	Uncertain significance (Jan 26, 2022)
9-131447116-G-A		not specified	Uncertain significance (May 16, 2023)
9-131447133-T-C		not specified	Uncertain significance (Jan 19, 2022)
9-131447154-C-T		not specified	Uncertain significance (May 03, 2023)
9-131447182-A-G		not specified	Uncertain significance (Apr 08, 2024)
9-131447193-A-T		not specified	Uncertain significance (Mar 19, 2024)
9-131447670-A-G		not specified	Uncertain significance (Jun 29, 2023)
9-131447687-C-T		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP