SRP19

Chr 5

signal recognition particle 19

NCBI Gene: 6728 ENSG00000153037 UniProt: P09132

Enables 7S RNA binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Located in cytosol; nuclear body; and nucleolus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews Research

GeneReviews ResearchGenerating clinical summary…

DNmechanismLOEUF 1.00

Clinical Summary— SRP19

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

5 unique Pathogenic / Likely Pathogenic· 23 VUS of 49 total submissions

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GeneReview available — SRP19

Authoritative clinical overview · Recommended first read

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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?

1.00LOEUF

pLI 0.007

Z-score 1.57

OE 0.48 (0.25–1.00)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.26Z-score

OE missense 0.92 (0.76–1.12)

73 obs / 79.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.25–1.00)

0≤0.351.4

Missense OE?0.92 (0.76–1.12)

0≤0.61.4

Synonymous OE?1.16

0≤1.21.6

LoF obs/exp: 5 / 10.5Missense obs/exp: 73 / 79.5Syn Z: -0.63

This gene — mechanism propensity

0.6842th %ile

GOF

0.4481th %ile

LOF

0.4134th %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

49 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5

VUS23

Likely Benign4

Benign2

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	5	5
Likely Pathogenic	0	0	0
VUS	22	1	23
Likely Benign	4	0	4
Benign	1	1	2
Total	27	7	34

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

View in ClinVar →

30 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap SRP19 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →