LSM7

Chr 19

LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated

Also known as: LDCA, YNL147W

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

ResearchGenerating clinical summary…
LOEUF 0.84
Clinical SummaryLSM7
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
📋
ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 9 VUS of 19 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.462
Z-score 1.82
OE 0.18 (0.060.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.43Z-score
OE missense 0.45 (0.320.63)
24 obs / 53.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.060.84)
00.351.4
Missense OE?0.45 (0.320.63)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 1 / 5.7Missense obs/exp: 24 / 53.5Syn Z: -0.71

ClinVar Variant Classifications

19 submitted variants in ClinVar

Classification Summary

Pathogenic2
Likely Pathogenic1
VUS9
2
Pathogenic
1
Likely Pathogenic
9
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
1
0
2
Likely Pathogenic
0
1
0
0
1
VUS
0
9
0
0
9
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0111012

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

View in ClinVar →

17 pathogenic / likely-pathogenic (of 28) ClinVar copy-number / structural variants overlap LSM7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

LSM7 · 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 →