NM_018714.3(COG1):c.1070+5G>A AND Nephrotic syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 2017
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:: RCV001849253.1

Allele description [Variation Report for NM_018714.3(COG1):c.1070+5G>A]

NM_018714.3(COG1):c.1070+5G>A

Genes:

LOC126862634:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-71197147 [Gene]
COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_018714.3(COG1):c.1070+5G>A

HGVS:

NC_000017.11:g.73200026G>A
NG_008971.1:g.11993G>A
NM_018714.3:c.1070+5G>AMANE SELECT
NC_000017.10:g.71196165G>A
NM_018714.2:c.1070+5G>A

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS6DS, G-A, +5

Links:

OMIM: 606973.0002; dbSNP: rs1568296260

NCBI 1000 Genomes Browser:

rs1568296260

Molecular consequence:

NM_018714.3:c.1070+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Nephrotic syndrome
Identifiers:: MONDO: MONDO:0005377; MedGen: C0027726; Human Phenotype Ontology: HP:0000100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106613	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Uncertain significance (Nov 10, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106613

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Uncertain significance
(Nov 10, 2017)

germline

literature only

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	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, et al.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

PubMed [citation]

PMID:: 29127259
PMCID:: PMC5753307

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106613.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Mar 26, 2023

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