NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) AND Nephrotic syndrome

Germline classification:: Likely pathogenic (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:: RCV001849482.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)]

NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)

HGVS:

NC_000023.11:g.108668436G>A
NG_011977.2:g.233513G>A
NM_000495.5:c.3722G>A
NM_033380.3:c.3722G>AMANE SELECT
NP_000486.1:p.Gly1241Asp
NP_203699.1:p.Gly1241Asp
LRG_232t1:c.3722G>A
LRG_232t2:c.3722G>A
LRG_232:g.233513G>A
LRG_232p1:p.Gly1241Asp
LRG_232p2:p.Gly1241Asp
NC_000023.10:g.107911666G>A
NG_011977.1:g.233513G>A
NM_000495.4:c.3722G>A

Protein change:

G1241D

Links:

dbSNP: rs281874721

NCBI 1000 Genomes Browser:

rs281874721

Molecular consequence:

NM_000495.5:c.3722G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033380.3:c.3722G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002107069	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (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

SCV002107069

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

no assertion criteria provided

Likely pathogenic
(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	3	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, SCV002107069.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine