FAM167A

Chr 8

family with sequence similarity 167 member A

Also known as: C8orf13, D8S265, DIORA-1

NCBI Gene: 83648ENSG00000154319UniProt: Q96KS9
0
Active trials
116
Pathogenic / LP
190
ClinVar variants
8
Pubs (1 yr)
-1.7
Missense Z
1.97
LOEUF
Clinical Summary— FAM167A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
116 Pathogenic / Likely Pathogenic· 70 VUS of 190 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.97LOEUF
pLI 0.000
Z-score -2.38
OE 2.01 (1.15–1.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.72Z-score
OE missense 1.42 (1.26–1.60)
192 obs / 135.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE2.01 (1.15–1.97)
0≤0.351.4
Missense OE1.42 (1.26–1.60)
0≤0.61.4
Synonymous OE1.55
0≤1.21.6
LoF obs/exp: 13 / 6.5Missense obs/exp: 192 / 135.5Syn Z: -3.31
GOF
DN
0.5576th %ile
GOF
0.6639th %ile
LOF
0.4627th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

190 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic112
Likely Pathogenic4
VUS70
Likely Benign4
112
Pathogenic
4
Likely Pathogenic
70
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
112
0
112
Likely Pathogenic
0
0
4
0
4
VUS
0
60
10
0
70
Likely Benign
0
1
1
2
4
Benign
0
0
0
0
0
Total0611272190

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

View in ClinVar →

FAM167A · 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

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 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Post-genome-wide association study dissects genetic vulnerability and risk gene expression of Sjögren's disease for cardiovascular disease.
Yi X et al.·J Transl Med
2025
Exploration of the regulatory function of genetic variants at FAM167A-BLK locus in systemic lupus erythematosus.
Li K et al.·Yi Chuan
2025
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation.
Rothwell S et al.·Arthritis Rheumatol
2023
Novel mechanistic insights into the comorbidity of anemia and rheumatoid arthritis: Identification of therapeutic targets.
Li C et al.·Mol Immunol
2025
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.
Yan L et al.·HGG Adv
2025
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients