RPL21P4

ribosomal protein L21 pseudogene 4

Basic information

Region (hg38): 17:43079302-43079780

Links

ENSG00000240828 ∙ NCBI:140660 ∙ ∙ HGNC:17959 ∙ ∙ ∙ 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 RPL21P4 gene.

• Breast-ovarian cancer, familial, susceptibility to, 1 (12 variants)
• Hereditary cancer-predisposing syndrome (7 variants)
• not provided (3 variants)
• Hereditary breast ovarian cancer syndrome (3 variants)
• BRCA1-related condition (1 variants)
• not specified (1 variants)
• Carcinoma of head of pancreas (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL21P4 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		1	6	11	3	21
Total	0	1	6	11	3

Highest pathogenic variant AF is 0.0000132

Variants in RPL21P4

This is a list of pathogenic ClinVar variants found in the RPL21P4 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-43079318-G-A		not specified • Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary cancer-predisposing syndrome	Benign (Sep 28, 2016)
17-43079329-G-T		Breast-ovarian cancer, familial, susceptibility to, 1 • BRCA1-related disorder	Likely benign (May 28, 2019)
17-43079330-G-A		Hereditary cancer-predisposing syndrome	Likely benign (Oct 19, 2015)
17-43079330-G-C		Hereditary cancer-predisposing syndrome	Likely benign (Oct 01, 2015)
17-43079331-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (Mar 02, 2020)
17-43079334-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Likely benign (Jun 23, 2016)
17-43079339-A-G		Hereditary breast ovarian cancer syndrome • Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity (Jul 02, 2018)
17-43079340-T-A		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (May 05, 2023)
17-43079340-T-C		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (Feb 19, 2016)
17-43079349-T-C		Breast-ovarian cancer, familial, susceptibility to, 1	Likely benign (Jun 03, 2016)
17-43079352-G-A		Hereditary cancer-predisposing syndrome	Likely benign (Oct 09, 2015)
17-43079353-C-T			Likely benign (Feb 01, 2021)
17-43079354-C-G		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (Aug 07, 2023)
17-43079369-G-C		BRCA1-related disorder	Uncertain significance (Nov 04, 2022)
17-43079373-T-TG		Breast-ovarian cancer, familial, susceptibility to, 1	Likely benign (Jul 24, 2017)
17-43079387-T-C		Carcinoma of head of pancreas	Uncertain significance (May 22, 2017)
17-43079400-C-T		Hereditary breast ovarian cancer syndrome • Breast-ovarian cancer, familial, susceptibility to, 1	Conflicting classifications of pathogenicity (Apr 28, 2023)
17-43079403-T-C		Breast-ovarian cancer, familial, susceptibility to, 1 • BRCA1-related disorder	Uncertain significance (-)
17-43079472-C-A		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
17-43079473-C-T		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
17-43079499-C-T		Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome	Benign (Jan 12, 2015)
17-43079681-G-C		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP