NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) AND Weill-Marchesani 4 syndrome, recessive

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 25, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000584730.2

Allele description [Variation Report for NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)]

NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)

Gene:

ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)

HGVS:

NC_000015.10:g.100281368del
NG_016287.2:g.65613del
NM_139057.4:c.652delMANE SELECT
NP_620688.2:p.Asp218fs
NC_000015.9:g.100821573del
NG_016287.1:g.65613del
NM_139057.2:c.652delG

Protein change:

D218fs

Links:

OMIM: 607511.0004; dbSNP: rs1555501030

NCBI 1000 Genomes Browser:

rs1555501030

Molecular consequence:

NM_139057.4:c.652del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000692455	OMIM	no assertion criteria provided	Pathogenic (Feb 16, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004806049	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 25, 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

SCV000692455

OMIM

no assertion criteria provided

Pathogenic
(Feb 16, 2018)

germline

literature only

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

SCV004806049

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 25, 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

Citations

PubMed

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.

Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS.

Ophthalmic Genet. 2012 Dec;33(4):235-9. doi: 10.3109/13816810.2012.666708. Epub 2012 Apr 9.

PubMed [citation]

PMID:: 22486325

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, SCV000692455.1

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

Description

In a sister and brother with spherophakia and short stature (WMS4; 613195), Khan et al. (2012) identified a 1-bp deletion (c.652delG, NM_139057.2), causing a frameshift predicted to result in a premature termination codon (Asp218ThrfsTer41). The mutation segregated fully with disease in the family.

#	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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806049.1

#	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: Apr 6, 2024

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