NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000517382.1

Allele description [Variation Report for NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)]

NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)

Gene:
HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)
HGVS:
  • NC_000016.10:g.67435628G>A
  • NG_016549.1:g.9496G>A
  • NM_000196.4:c.266G>AMANE SELECT
  • NP_000187.3:p.Gly89Asp
  • NC_000016.9:g.67469531G>A
  • NM_000196.3:c.266G>A
  • p.GLY89ASP
Protein change:
G89D
Links:
dbSNP: rs1555518481
NCBI 1000 Genomes Browser:
rs1555518481
Molecular consequence:
  • NM_000196.4:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613668Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Mar 16, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, Gharbiah M, Malek JA, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chouchane L, Stadler DJ, Mezey JG, Crystal RG.

Hum Mutat. 2014 Jan;35(1):105-16. doi: 10.1002/humu.22460. Epub 2013 Nov 10.

PubMed [citation]
PMID:
24123366
PMCID:
PMC3908915

Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess.

Zahraldin K, Janahi IA, Ben-Omran T, Alsulaiman R, Hamad B, Imam A.

Ann Thorac Med. 2015 Jan-Mar;10(1):69-72. doi: 10.4103/1817-1737.146892.

PubMed [citation]
PMID:
25593612
PMCID:
PMC4286850
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000613668.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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