NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile) AND Weill-Marchesani 4 syndrome, recessive

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 29, 2023
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:: RCV003307346.1

Allele description [Variation Report for NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)]

NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)

HGVS:

NC_000015.10:g.100155263C>G
NG_016287.2:g.191716G>C
NM_139057.4:c.1239G>CMANE SELECT
NP_620688.2:p.Met413Ile
NC_000015.9:g.100695468C>G

Protein change:

M413I

Molecular consequence:

NM_139057.4:c.1239G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004009541	Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 29, 2023)	biparental	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

SCV004009541

Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 29, 2023)

biparental

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	biparental	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, SCV004009541.1

#	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	biparental	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Aug 5, 2023

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