NM_139057.4(ADAMTS17):c.1721+1G>A AND Weill-Marchesani 4 syndrome, recessive

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000003305.7

Allele description [Variation Report for NM_139057.4(ADAMTS17):c.1721+1G>A]

NM_139057.4(ADAMTS17):c.1721+1G>A

Genes:

ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
LOC130058037:ATAC-STARR-seq lymphoblastoid active region 10166 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_139057.4(ADAMTS17):c.1721+1G>A

HGVS:

NC_000015.10:g.100132006C>T
NG_016287.2:g.214973G>A
NM_139057.4:c.1721+1G>AMANE SELECT
NC_000015.9:g.100672211C>T
NM_139057.3:c.1721+1G>A

Nucleotide change:

IVS12, G-A, +1

Links:

OMIM: 607511.0003; dbSNP: rs749116256

NCBI 1000 Genomes Browser:

rs749116256

Molecular consequence:

NM_139057.4:c.1721+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Weill-Marchesani 4 syndrome, recessive
Synonyms:: Weill-Marchesani-like syndrome; Weill-Marchesani syndrome 4
Identifiers:: MONDO: MONDO:0013176; MedGen: C2750787; Orphanet: 363992; OMIM: 613195

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023463	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004009543	Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 29, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004808077	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023463

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2009)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV004009543

Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 29, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004808077

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 29, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.

Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.

PubMed [citation]

PMID:: 19836009
PMCID:: PMC2775842

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000023463.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 33-year-old man with Weill-Marchesani syndrome (WMS4; 613195), Morales et al. (2009) identified homozygosity for a 1721+1G-A transition in intron 12 of the ADAMTS17 gene. The mutation was not found in 300 ethnically matched controls. In mRNA analysis, 3 aberrant transcripts were detected, all of which harbored a frameshift and were predicted to produce truncated proteins of 579 and 574 amino acids, respectively.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, SCV004009543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	1	not provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004808077.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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