GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 26, 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:: RCV001194542.1

Allele description [Variation Report for GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1]

GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1

Genes:

MASP2:MBL associated serine protease 2 [Gene - OMIM - HGNC]
TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
SRM:spermidine synthase [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p36.22

Genomic location:

Chr1: 11053101 - 11336968 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1

HGVS:

NC_000001.10:g.(?_11053101)_(11336968_?)del

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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TSA: Hemiselmis andersenii strain CCMP644, transcriptome shotgun assembly
TSA: Hemiselmis andersenii strain CCMP644, transcriptome shotgun assembly
gi|1963709945|emb|HBFX00000000.1|HB 00000

Nucleotide
unnamed protein product (mitochondrion) [Plasmodiophora brassicae]
unnamed protein product (mitochondrion) [Plasmodiophora brassicae]
gi|1517189873|emb|SPQ93739.1||gnl|W EO|SPQ93739

Protein
PREDICTED: Homo sapiens SET domain containing 3, actin N3(tau)-histidine methylt...
PREDICTED: Homo sapiens SET domain containing 3, actin N3(tau)-histidine methyltransferase (SETD3), transcript variant X4, mRNA
gi|2217298625|ref|XM_047431805.1|

Nucleotide
Increased hepatic echogenicity
Increased hepatic echogenicity

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001364181	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Likely pathogenic (Sep 26, 2019)	unknown	clinical testing	https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001364181

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Likely pathogenic
(Sep 26, 2019)

unknown

clinical testing

https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=TARDBP

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364181.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 23, 2022

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