GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001259559.1

Allele description [Variation Report for GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3]

GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3

Genes:

IPP:intracisternal A particle-promoted polypeptide [Gene - OMIM - HGNC]
MAST2:microtubule associated serine/threonine kinase 2 [Gene - OMIM - HGNC]
PIK3R3:phosphoinositide-3-kinase regulatory subunit 3 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1p34.1

Genomic location:

Chr1: 46195374 - 46533373 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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sodium/potassium/calcium exchanger 3 [Rattus norvegicus]
sodium/potassium/calcium exchanger 3 [Rattus norvegicus]
gi|686661093|ref|NP_445957.2|

Protein
Caenorhabditis elegans Histone H2B 2 (his-22), partial mRNA
Caenorhabditis elegans Histone H2B 2 (his-22), partial mRNA
gi|17562007|ref|NM_072893.1|

Nucleotide
Suppressor of ZYg-1 [Caenorhabditis elegans]
Suppressor of ZYg-1 [Caenorhabditis elegans]
gi|392890250|ref|NP_495240.3|

Protein
Pseudomonas sp. 8D32 16S ribosomal RNA gene, partial sequence
Pseudomonas sp. 8D32 16S ribosomal RNA gene, partial sequence
gi|298497557|gb|GU932968.1|

Nucleotide
Micropterus treculii voucher NA, GUB Buchanan 13 cardiac muscle myosin heavy cha...
Micropterus treculii voucher NA, GUB Buchanan 13 cardiac muscle myosin heavy chain 6 alpha gene, partial cds
gi|2027997115|gb|MW252720.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001436528	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Dec 2, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001436528

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Dec 2, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436528.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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