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NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala) AND Renal agenesis and hypodysplasia

Germline classification:
association (1 submission)
Last evaluated:
Nov 2, 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:
RCV000845166.1

Allele description [Variation Report for NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala)]

NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala)

Gene:
GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala)
HGVS:
  • NC_000018.10:g.21508502T>C
  • NM_001142966.3:c.4646T>CMANE SELECT
  • NP_001136438.1:p.Val1549Ala
  • NP_001136438.1:p.Val1549Ala
  • NC_000018.9:g.19088463T>C
  • NM_001142966.2:c.4646T>C
Protein change:
V1549A
Links:
dbSNP: rs1598947815
NCBI 1000 Genomes Browser:
rs1598947815
Molecular consequence:
  • NM_001142966.3:c.4646T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal agenesis and hypodysplasia
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000987102Yale Center for Mendelian Genomics, Yale University
no assertion criteria provided
association
(Nov 2, 2017) 		unknownliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, et al.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

PubMed [citation]
PMID:
29100090
PMCID:
PMC5673636

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000987102.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022