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NM_139057.4(ADAMTS17):c.1721+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 16, 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:
RCV003555905.2

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004296615Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Nov 16, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004296615.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change affects a donor splice site in intron 12 of the ADAMTS17 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs749116256, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with clinical features consistent with Weill-Marchesani-like syndrome (PMID: 19836009). ClinVar contains an entry for this variant (Variation ID: 3155). Studies have shown that disruption of this splice site results in skipping of exon 12 and introduces a premature termination codon (PMID: 19836009). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024