NC_000009.11:g.(?_139440158)_(139440238_?)del AND Adams-Oliver syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 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:: RCV004582044.2

Allele description [Variation Report for NC_000009.11:g.(?_139440158)_(139440238_?)del]

NC_000009.11:g.(?_139440158)_(139440238_?)del

Gene:: NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 9q34.3
Genomic location:: Chr9: 139440158 - 139440238 (on Assembly GRCh37)
Preferred name:: NC_000009.11:g.(?_139440158)_(139440238_?)del
HGVS:: NC_000009.11:g.(?_139440158)_(139440238_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: Adams-Oliver syndrome 5 (AOS5)
Identifiers:: MONDO: MONDO:0014459; MedGen: C4014970; Orphanet: 974; OMIM: 616028

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005067391	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 20, 2023)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16025100, 21457232, 25132448, 25963545, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005067391

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 20, 2023)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in NOTCH1 cause aortic valve disease.

Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D.

Nature. 2005 Sep 8;437(7056):270-4. Epub 2005 Jul 17.

PubMed [citation]

PMID:: 16025100

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O.

Clin Genet. 2012 Jun;81(6):542-54. doi: 10.1111/j.1399-0004.2011.01674.x. Epub 2011 Apr 25.

PubMed [citation]

PMID:: 21457232

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005067391.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Adams-Oliver syndrome (PMID: 25132448). This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the NOTCH1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NOTCH1 are known to be pathogenic (PMID: 16025100, 21457232, 25132448, 25963545).

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

Last Updated: Sep 29, 2024

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