PNMA8A

PNMA family member 8A, the group of Paraneoplastic Ma antigens

Basic information

Region (hg38): 19:46466491-46471563

Previous symbols: [ "PNMAL1" ]

Links

ENSG00000182013 ∙ NCBI:55228 ∙ ∙ HGNC:25578 ∙ Uniprot:Q86V59 ∙ 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 PNMA8A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNMA8A 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				1		1
missense			46	4		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	5	0

Variants in PNMA8A

This is a list of pathogenic ClinVar variants found in the PNMA8A region.

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

Position	Type	Phenotype	Significance	ClinVar
19-46469744-C-G		not specified	Uncertain significance (Feb 01, 2023)
19-46469744-C-T		not specified	Uncertain significance (Jan 18, 2025)
19-46469748-G-A		not specified	Uncertain significance (Jan 19, 2022)
19-46469750-G-A		not specified	Uncertain significance (Dec 20, 2024)
19-46469802-C-T		not specified	Uncertain significance (Nov 20, 2023)
19-46469819-C-T		not specified	Uncertain significance (Aug 05, 2024)
19-46469820-G-A		not specified	Uncertain significance (May 27, 2022)
19-46469834-T-G		not specified	Uncertain significance (Aug 12, 2021)
19-46469853-A-G		not specified	Uncertain significance (Jun 19, 2024)
19-46469898-C-G		not specified	Uncertain significance (Oct 09, 2024)
19-46469913-C-T		not specified	Uncertain significance (Dec 28, 2022)
19-46469915-T-G		not specified	Uncertain significance (Oct 16, 2024)
19-46469934-T-G		not specified	Uncertain significance (Sep 20, 2023)
19-46469935-C-G		not specified	Likely benign (Oct 12, 2024)
19-46469967-T-C		not specified	Uncertain significance (Jan 27, 2025)
19-46469988-C-T		not specified	Likely benign (Jul 15, 2021)
19-46470032-G-A		not specified	Uncertain significance (Sep 11, 2024)
19-46470057-C-T		not specified	Uncertain significance (Aug 09, 2021)
19-46470068-C-T		not specified	Likely benign (Aug 14, 2024)
19-46470069-G-A		not specified	Uncertain significance (Apr 18, 2023)
19-46470077-T-C		not specified	Uncertain significance (Feb 27, 2024)
19-46470081-G-T		not specified	Uncertain significance (Oct 25, 2023)
19-46470120-G-A		not specified	Uncertain significance (Dec 15, 2022)
19-46470122-T-G		not specified	Uncertain significance (Jun 24, 2022)
19-46470126-T-C		not specified	Uncertain significance (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PNMA8A	protein_coding	protein_coding	ENST00000313683	2	5073

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00333	0.954	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0122	258	259	0.998	0.0000147	2857
Missense in Polyphen		16	19.596	0.8165		195
Synonymous	-2.32	130	100	1.29	0.00000577	886
Loss of Function	1.78	6	12.9	0.466	5.45e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000488	0.000487
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000982	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000497	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0928

Intolerance Scores

• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Haploinsufficiency Scores

• pHI: 0.0819
• hipred: N
• hipred_score: 0.146
• ghis: 0.561

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Pnmal1