NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) AND Benign familial hematuria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2002
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:: RCV000019042.29

Allele description [Variation Report for NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)]

NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)

Genes:

MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)

HGVS:

NC_000002.12:g.227289222G>T
NG_011591.1:g.129658G>T
NM_000091.5:c.2954G>TMANE SELECT
NP_000082.2:p.Gly985Val
NP_000082.2:p.Gly985Val
LRG_230t1:c.2954G>T
LRG_230:g.129658G>T
LRG_230p1:p.Gly985Val
NC_000002.11:g.228153938G>T
NM_000091.4:c.2954G>T
Q01955:p.Gly985Val

Protein change:

G985V; GLY985VAL

Links:

UniProtKB: Q01955#VAR_030948; OMIM: 120070.0008; dbSNP: rs121912827

NCBI 1000 Genomes Browser:

rs121912827

Molecular consequence:

NM_000091.5:c.2954G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Benign familial hematuria
Identifiers:: MONDO: MONDO:0957317; MedGen: C0241908; OMIM: PS141200

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
SCV000039329	OMIM	no assertion criteria provided	Pathogenic (May 1, 2002)	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

SCV000039329

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2002)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

Badenas C, Praga M, Tazón B, Heidet L, Arrondel C, Armengol A, Andrés A, Morales E, Camacho JA, Lens X, Dávila S, Milà M, Antignac C, Darnell A, Torra R.

J Am Soc Nephrol. 2002 May;13(5):1248-1254. doi: 10.1681/ASN.V1351248.

PubMed [citation]

PMID:: 11961012

Details of each submission

From OMIM, SCV000039329.3

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

Description

In a family with benign familial hematuria (BFH; 141200), Badenas et al. (2002) identified a mutation in exon 35 of the COL4A3 gene that resulted in a gly985-to-val (G985V) amino acid substitution in the collagenous domain of the protein.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine