NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000084835.2

Allele description [Variation Report for NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser)]

NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser)
HGVS:
  • NC_000017.11:g.8003201G>T
  • NG_009092.1:g.5532G>T
  • NM_000180.3:c.154G>T
  • NP_000171.1:p.Ala52Ser
  • NC_000017.10:g.7906519G>T
  • Q02846:p.Ala52Ser
Protein change:
A52S; ALA52SER
Links:
UniProtKB: Q02846#VAR_003435; OMIM: 600179.0004; dbSNP: rs61749665
GMAF:
0.4159(T), 61749665
NCBI 1000 Genomes Browser:
rs61749665
Allele Frequency:
0.2056, GO-ESP
Molecular consequence:
  • NM_000180.3:c.154G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116971Retina Internationalno assertion providednot providednot providednot provided

SCV000172504Department of Ophthalmology and Visual Sciences Kyoto Universityno assertion criteria providedprobable-non-pathogenicnot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided2not providedliterature only

Details of each submission

From Retina International, SCV000116971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2018