NM_000328.3(RPGR):c.141T>G (p.Ser47=) 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:
RCV000085056.4

Allele description [Variation Report for NM_000328.3(RPGR):c.141T>G (p.Ser47=)]

NM_000328.3(RPGR):c.141T>G (p.Ser47=)

Gene:
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000328.3(RPGR):c.141T>G (p.Ser47=)
HGVS:
  • NC_000023.11:g.38323412A>C
  • NG_009553.1:g.9124T>G
  • NM_000328.3:c.141T>GMANE SELECT
  • NM_001034853.2:c.141T>G
  • NM_001367245.1:c.141T>G
  • NM_001367246.1:c.141T>G
  • NM_001367247.1:c.141T>G
  • NM_001367248.1:c.171T>G
  • NM_001367249.1:c.141T>G
  • NM_001367250.1:c.141T>G
  • NM_001367251.1:c.141T>G
  • NP_000319.1:p.Ser47=
  • NP_001030025.1:p.Ser47=
  • NP_001354174.1:p.Ser47=
  • NP_001354175.1:p.Ser47=
  • NP_001354176.1:p.Ser47=
  • NP_001354177.1:p.Ser57=
  • NP_001354178.1:p.Ser47=
  • NP_001354179.1:p.Ser47=
  • NP_001354180.1:p.Ser47=
  • NC_000023.10:g.38182665A>C
  • NM_000328.2:c.141T>G
  • NM_001034853.1:c.141T>G
  • NR_159803.1:n.283T>G
  • NR_159804.1:n.283T>G
  • NR_159805.1:n.283T>G
  • NR_159806.1:n.283T>G
  • NR_159807.1:n.283T>G
  • NR_159808.1:n.551T>G
  • p.Ser47Ser
Links:
dbSNP: rs62638631
NCBI 1000 Genomes Browser:
rs62638631
Molecular consequence:
  • NR_159803.1:n.283T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159804.1:n.283T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159805.1:n.283T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159806.1:n.283T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159807.1:n.283T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159808.1:n.551T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000328.3:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001034853.2:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367245.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367246.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367247.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367248.1:c.171T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367249.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367250.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367251.1:c.141T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000117192Retina Internationalno assertion providednot providednot providednot provided

SCV001974699Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117192.1

#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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974699.1

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

Last Updated: Nov 27, 2021

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