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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002037095Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023