FAM151A

Chr 1

family with sequence similarity 151 member A

Also known as: C1orf179

NCBI Gene: 338094 ENSG00000162391 UniProt: Q8WW52

The protein is located in extracellular exosomes but its specific function is not well characterized. Mutations in this gene cause autosomal recessive cone-rod dystrophy, a progressive retinal degeneration affecting both cone and rod photoreceptors that typically begins in childhood or adolescence. The gene shows tolerance to loss-of-function variants (pLI near 0, LOEUF 1.5), consistent with the recessive inheritance pattern observed in retinal dystrophy cases.

ResearchSummary from RefSeq

Located in extracellular exosome. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.50

Clinical Summary— FAM151A

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

97 VUS of 134 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.50LOEUF

pLI 0.000

Z-score -0.28

OE 1.06 (0.77–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.19Z-score

OE missense 1.03 (0.94–1.12)

354 obs / 344.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.06 (0.77–1.50)

0≤0.351.4

Missense OE?1.03 (0.94–1.12)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 24 / 22.6Missense obs/exp: 354 / 344.3Syn Z: -1.36

ClinVar Variant Classifications

134 submitted variants in ClinVar

ClinVar

Classification Summary

VUS97

Likely Benign14

Benign8

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	0	97	0	0	97
Likely Benign	2	12	0	0	14
Benign	2	3	1	2	8
Total	4	112	1	2	119

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 22) ClinVar copy-number / structural variants overlap FAM151A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →