RSRC1

Chr 3AR

arginine and serine rich coiled-coil 1

Also known as: BM-011, MRT70, SFRS21, SRrp53

NCBI Gene: 51319 ENSG00000174891 OMIM: 613352

The protein regulates constitutive and alternative pre-mRNA splicing, including recognition of 3' splice sites during the second step of splicing. Mutations cause autosomal recessive intellectual developmental disorder. This gene shows tolerance to loss-of-function variants in the general population (low constraint), which is consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.841 OMIM phenotype

Clinical Summary— RSRC1

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Gene-Disease Validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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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

11 unique Pathogenic / Likely Pathogenic· 58 VUS of 83 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 2.12

OE 0.49 (0.30–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.09Z-score

OE missense 0.98 (0.87–1.11)

176 obs / 179.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.30–0.84)

0≤0.351.4

Missense OE?0.98 (0.87–1.11)

0≤0.61.4

Synonymous OE?1.19

0≤1.21.6

LoF obs/exp: 10 / 20.3Missense obs/exp: 176 / 179.6Syn Z: -1.10

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveRSRC1-related intellectual developmental disorderLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.7325th %ile

GOF

0.6444th %ile

LOF

0.49top 25%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

83 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7

Likely Pathogenic4

VUS58

Likely Benign5

Benign1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	6	1	0	0	7
Likely Pathogenic	4	0	0	0	4
VUS	0	56	2	0	58
Likely Benign	0	2	0	3	5
Benign	0	1	0	0	1
Total	10	60	2	3	75

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

View in ClinVar →

21 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap RSRC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →