GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
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:: RCV000767772.1

Allele description [Variation Report for GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)]

GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)

Genes:

BSDC1:BSD domain containing 1 [Gene - OMIM - HGNC]
CSMD2:CUB and Sushi multiple domains 2 [Gene - OMIM - HGNC]
DLGAP3:DLG associated protein 3 [Gene - OMIM - HGNC]
KIAA0319L:KIAA0319 like [Gene - OMIM - HGNC]
KIAA1522:KIAA1522 [Gene - HGNC]
RBBP4:RB binding protein 4, chromatin remodeling factor [Gene - OMIM - HGNC]
S100PBP:S100P binding protein [Gene - OMIM - HGNC]
AK2:adenylate kinase 2 [Gene - OMIM - HGNC]
A3GALT2:alpha 1,3-galactosyltransferase 2 [Gene - OMIM - HGNC]
AZIN2:antizyme inhibitor 2 [Gene - OMIM - HGNC]
AGO3:argonaute RISC catalytic component 3 [Gene - OMIM - HGNC]
AGO1:argonaute RISC component 1 [Gene - OMIM - HGNC]
AGO4:argonaute RISC component 4 [Gene - OMIM - HGNC]
C1orf216:chromosome 1 open reading frame 216 [Gene - HGNC]
C1orf94:chromosome 1 open reading frame 94 [Gene - HGNC]
CLSPN:claspin [Gene - OMIM - HGNC]
FNDC5:fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
GJA4:gap junction protein alpha 4 [Gene - OMIM - HGNC]
GJB3:gap junction protein beta 3 [Gene - OMIM - HGNC]
GJB4:gap junction protein beta 4 [Gene - OMIM - HGNC]
GJB5:gap junction protein beta 5 [Gene - OMIM - HGNC]
HMGB4:high mobility group box 4 [Gene - OMIM - HGNC]
HPCA:hippocalcin [Gene - OMIM - HGNC]
NCDN:neurochondrin [Gene - OMIM - HGNC]
PHC2:polyhomeotic homolog 2 [Gene - OMIM - HGNC]
PSMB2:proteasome 20S subunit beta 2 [Gene - OMIM - HGNC]
RNF19B:ring finger protein 19B [Gene - OMIM - HGNC]
SMIM12:small integral membrane protein 12 [Gene - HGNC]
SFPQ:splicing factor proline and glutamine rich [Gene - OMIM - HGNC]
SYNC:syncoilin, intermediate filament protein [Gene - OMIM - HGNC]
TFAP2E:transcription factor AP-2 epsilon [Gene - OMIM - HGNC]
TMEM35B:transmembrane protein 35B [Gene - HGNC]
TMEM54:transmembrane protein 54 [Gene - HGNC]
TRIM62:tripartite motif containing 62 [Gene - OMIM - HGNC]
YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
ZMYM1:zinc finger MYM-type containing 1 [Gene - HGNC]
ZMYM4:zinc finger MYM-type containing 4 [Gene - OMIM - HGNC]
ZMYM6:zinc finger MYM-type containing 6 [Gene - OMIM - HGNC]
ZBTB8OS:zinc finger and BTB domain containing 8 opposite strand [Gene - OMIM - HGNC]
ZBTB8A:zinc finger and BTB domain containing 8A [Gene - OMIM - HGNC]
ZBTB8B:zinc finger and BTB domain containing 8B [Gene - HGNC]
ZSCAN20:zinc finger and SCAN domain containing 20 [Gene - OMIM - HGNC]
ZNF362:zinc finger protein 362 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1p35.1-34.3

Genomic location:

Chr1: 32859415 - 36454915 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)

HGVS:

NC_000001.10:g.(?_32859415)_(36454915_?)del

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Homo sapiens mediator complex subunit 12L (MED12L), RefSeqGene on chromosome 3
Homo sapiens mediator complex subunit 12L (MED12L), RefSeqGene on chromosome 3
gi|2301856004|ref|NG_021244.2|

Nucleotide
Homo sapiens calnexin, mRNA (cDNA clone MGC:1196 IMAGE:3546389), complete cds
Homo sapiens calnexin, mRNA (cDNA clone MGC:1196 IMAGE:3546389), complete cds
gi|13097683|gb|BC003552.1|

Nucleotide
M9W_RS01110 [Rickettsia prowazekii str. Chernikova]
M9W_RS01110 [Rickettsia prowazekii str. Chernikova]
Gene ID:57569346

Gene
"107785-59-1"[CompleteSynonym] (0)
PubChem Compound

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898394	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Pathogenic (Nov 1, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898394

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Pathogenic
(Nov 1, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898394.1

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

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

#	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		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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Relating variation to medicine