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NC_000002.12:g.(?_9509959)_(9510151_?)dup AND Inflammatory skin and bowel disease, neonatal, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2019
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:
RCV001033170.3

Allele description

NC_000002.12:g.(?_9509959)_(9510151_?)dup

Gene:
ADAM17:ADAM metallopeptidase domain 17 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p25.1
Genomic location:
Chr2: 9650088 - 9650280 (on Assembly GRCh37)
Preferred name:
NC_000002.12:g.(?_9509959)_(9510151_?)dup
HGVS:
  • NC_000002.12:g.(?_9509959)_(9510151_?)dup
  • NC_000002.11:g.(?_9650088)_(9650280_?)dup

Condition(s)

Name:
Inflammatory skin and bowel disease, neonatal, 1
Identifiers:
MONDO: MONDO:0013693; MedGen: C3280501; Orphanet: 294023; OMIM: 614328

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001196477Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 22, 2019) 		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

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

Newman S, Hermetz KE, Weckselblatt B, Rudd MK.

Am J Hum Genet. 2015 Feb 5;96(2):208-20. doi: 10.1016/j.ajhg.2014.12.017. Epub 2015 Jan 29.

PubMed [citation]
PMID:
25640679
PMCID:
PMC4320257

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 Invitae, SCV001196477.2

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

Description

This variant results in a copy number gain of the genomic region encompassing exon 11 of the ADAM17 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with ADAM17-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 26, 2023