ADAMTSL4

Chr 1AR

ADAMTS like 4

Also known as: ADAMTSL-4, ECTOL2, TSRC1

NCBI Gene: 54507 ENSG00000143382 UniProt: Q6UY14 OMIM: 610113

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.092 OMIM phenotypes

Clinical Summary— ADAMTSL4

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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

171 unique Pathogenic / Likely Pathogenic· 527 VUS of 1457 total submissions

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GeneReview available — ADAMTSL4

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.09LOEUF

pLI 0.000

Z-score 0.98

OE 0.86 (0.68–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.99 (0.93–1.06)

666 obs / 671.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.86 (0.68–1.09)

0≤0.351.4

Missense OE?0.99 (0.93–1.06)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 47 / 54.8Missense obs/exp: 666 / 671.8Syn Z: 0.34

ClinVar Variant Classifications

1457 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic131

Likely Pathogenic40

VUS527

Likely Benign624

Benign69

Conflicting54

131

Pathogenic

Likely Pathogenic

527

VUS

624

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	125	1	5	0	131
Likely Pathogenic	38	1	1	0	40
VUS	6	485	28	8	527
Likely Benign	1	22	222	379	624
Benign	0	7	48	14	69
Conflicting	—				54
Total	170	516	304	401	1,445

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap ADAMTSL4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →