PNMA8A

protein-coding

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

Gene summary

Located in nuclear body. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

PNMAL1

MANE transcript

NM_018215.4

Inheritance

—

ClinVar variants

U:82B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr19:46,466,491-46,471,563

External References & Databases

Ensembl (ENSG00000182013)

Transcript & Mutation Effects

hg38 • Region Span ~5.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PNMA8A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 86

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018215.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			81 clinvar	4 clinvar		85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	6	0	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018215.4	RefSeq	NP_060685.2	2	MANE Select
ENST00000313683.15	Ensembl	ENSP00000318131.10	2	MANE Select
NM_001103149.2	RefSeq	NP_001096619.1	2	Standard
ENST00000438932.2	Ensembl	ENSP00000410273.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000313683
Coding exons: 2
Length: 5073
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 29
Defined: 125748
p: 0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0122	258	259	0.998	0.0000147	2857
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00030	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000098	0.000097	rare
South Asian	0.000065	0.000065	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0928

Intolerance Scores

RVIS EVS: 0.02
RVIS percentile EVS: 55.61

Essentials

Essential (gene trap): N