RBM8A

Chr 1

RNA binding motif protein 8A

Also known as: BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, TAR

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

GeneReviewsResearchGenerating clinical summary…
LOFmechanismLOEUF 0.56
Clinical SummaryRBM8A
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Gene-Disease Validity (ClinGen)
thrombocytopenia-absent radius syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.
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ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 22 VUS of 105 total submissions
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GeneReview available — RBM8A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.573
Z-score 2.54
OE 0.18 (0.070.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.16Z-score
OE missense 0.43 (0.340.55)
49 obs / 113.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.18 (0.070.56)
00.351.4
Missense OE?0.43 (0.340.55)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 2 / 11.2Missense obs/exp: 49 / 113.9Syn Z: 0.66

ClinVar Variant Classifications

105 submitted variants in ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic1
VUS22
Likely Benign58
Benign7
Conflicting3
13
Pathogenic
1
Likely Pathogenic
22
VUS
58
Likely Benign
7
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
8
0
13
Likely Pathogenic
1
0
0
0
1
VUS
0
17
4
1
22
Likely Benign
0
1
38
19
58
Benign
0
0
7
0
7
Conflicting
3
Total6185720104

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

View in ClinVar →

135 pathogenic / likely-pathogenic (of 215) ClinVar copy-number / structural variants overlap RBM8A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

RBM8A · 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 →