FAM90A16

Chr 8

family with sequence similarity 90 member A16

Also known as: FAM90A16P, FAM90A17P

0
Active trials
38
Pathogenic / LP
161
ClinVar variants
0
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryFAM90A16
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic of 161 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
DN
0.6259th %ile
GOF
0.5170th %ile
LOF
0.4037th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

161 submitted variants in ClinVar

Classification Summary

Pathogenic38
Benign122
Conflicting1
38
Pathogenic
122
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
38
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
122
Conflicting
1
Total161

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

FAM90A16 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found