GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) 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:: RCV000767767.1

Allele description [Variation Report for GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)]

GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)

Genes:

NT5C:5', 3'-nucleotidase, cytosolic [Gene - OMIM - HGNC]
ATP5PD:ATP synthase peripheral stalk subunit d [Gene - OMIM - HGNC]
BTBD17:BTB domain containing 17 [Gene - HGNC]
CD300LB:CD300 molecule like family member b [Gene - OMIM - HGNC]
CD300LD:CD300 molecule like family member d [Gene - OMIM - HGNC]
CD300LF:CD300 molecule like family member f [Gene - OMIM - HGNC]
CD300LD-AS1:CD300LD antisense RNA 1 [Gene - HGNC]
CD300A:CD300a molecule [Gene - OMIM - HGNC]
CD300C:CD300c molecule [Gene - OMIM - HGNC]
CD300E:CD300e molecule [Gene - OMIM - HGNC]
CDC42EP4:CDC42 effector protein 4 [Gene - OMIM - HGNC]
GPR142:G protein-coupled receptor 142 [Gene - OMIM - HGNC]
GPRC5C:G protein-coupled receptor class C group 5 member C [Gene - OMIM - HGNC]
HID1:HID1 domain containing [Gene - OMIM - HGNC]
JPT1:Jupiter microtubule associated homolog 1 [Gene - OMIM - HGNC]
NAT9:N-acetyltransferase 9 (putative) [Gene - HGNC]
NHERF1:NHERF family PDZ scaffold protein 1 [Gene - OMIM - HGNC]
RAB37:RAB37, member RAS oncogene family [Gene - OMIM - HGNC]
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
ARMC7:armadillo repeat containing 7 [Gene - HGNC]
CDR2L:cerebellar degeneration related protein 2 like [Gene - HGNC]
C17orf80:chromosome 17 open reading frame 80 [Gene - HGNC]
CPSF4L:cleavage and polyadenylation specific factor 4 like [Gene - HGNC]
COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]
DNAI2:dynein axonemal intermediate chain 2 [Gene - OMIM - HGNC]
FAM104A:family with sequence similarity 104 member A [Gene - HGNC]
FADS6:fatty acid desaturase 6 [Gene - HGNC]
FDXR:ferredoxin reductase [Gene - OMIM - HGNC]
GRIN2C:glutamate ionotropic receptor NMDA type subunit 2C [Gene - OMIM - HGNC]
KIF19:kinesin family member 19 [Gene - OMIM - HGNC]
MRPL58:mitochondrial ribosomal protein L58 [Gene - OMIM - HGNC]
OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
OTOP3:otopetrin 3 [Gene - OMIM - HGNC]
KCTD2:potassium channel tetramerization domain containing 2 [Gene - OMIM - HGNC]
RPL38:ribosomal protein L38 [Gene - OMIM - HGNC]
SDK2:sidekick cell adhesion molecule 2 [Gene - OMIM - HGNC]
SUMO2:small ubiquitin like modifier 2 [Gene - OMIM - HGNC]
SLC16A5:solute carrier family 16 member 5 [Gene - OMIM - HGNC]
SLC39A11:solute carrier family 39 member 11 [Gene - OMIM - HGNC]
SSTR2:somatostatin receptor 2 [Gene - OMIM - HGNC]
TMEM104:transmembrane protein 104 [Gene - HGNC]
TTYH2:tweety family member 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q24.3-25.1

Genomic location:

Chr17: 70720436 - 73175266 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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BioProject Links for Nucleotide (Select 2217350248) (1)
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Gene ID:4354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898389	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

SCV000898389

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, SCV000898389.1

#	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: Mar 26, 2023

ClinVar

Relating variation to medicine