ABHD16A

Chr 6AR

abhydrolase domain containing 16A, phospholipase

Also known as: BAT5, D6S82E, NG26, PP199, SPG86, hBAT5

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.381 OMIM phenotype
Clinical SummaryABHD16A
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
📋
ClinVar Variants
8 unique Pathogenic / Likely Pathogenic· 69 VUS of 117 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.473
Z-score 4.63
OE 0.22 (0.130.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.48Z-score
OE missense 0.62 (0.550.69)
207 obs / 334.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.130.38)
00.351.4
Missense OE?0.62 (0.550.69)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 9 / 40.9Missense obs/exp: 207 / 334.6Syn Z: 1.02

ClinVar Variant Classifications

117 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic3
VUS69
Likely Benign13
Benign1
Conflicting2
5
Pathogenic
3
Likely Pathogenic
69
VUS
13
Likely Benign
1
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
1
0
0
5
Likely Pathogenic
3
0
0
0
3
VUS
2
66
1
0
69
Likely Benign
0
9
1
3
13
Benign
0
0
0
1
1
Conflicting
2
Total9762493

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap ABHD16A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ABHD16A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →