NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) AND Renal hypodysplasia/aplasia 3

Germline classification:: Uncertain significance (1 submission)
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:: RCV001795811.2

Allele description [Variation Report for NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)]

NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)

Genes:

GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
LOC101927521:uncharacterized LOC101927521 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.1

Genomic location:

Preferred name:

NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)

HGVS:

NC_000018.10:g.21401170G>A
NM_001142966.3:c.553G>AMANE SELECT
NP_001136438.1:p.Gly185Ser
NC_000018.9:g.18981131G>A

Protein change:

G185S

Links:

dbSNP: rs2144520227

NCBI 1000 Genomes Browser:

rs2144520227

Molecular consequence:

NM_001142966.3:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Renal hypodysplasia/aplasia 3 (RHDA3)
Identifiers:: MONDO: MONDO:0024520; MedGen: C4540497; OMIM: 617805

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
SCV002037095	Institute of Human Genetics, Cologne University	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002037095

Institute of Human Genetics, Cologne University

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002037095.1

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

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine