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NM_002900.3(RBP3):c.1037G>A (p.Arg346His) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
May 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001723760.3

Allele description [Variation Report for NM_002900.3(RBP3):c.1037G>A (p.Arg346His)]

NM_002900.3(RBP3):c.1037G>A (p.Arg346His)

Gene:
RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.22
Genomic location:
Preferred name:
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
HGVS:
  • NC_000010.11:g.47349521G>A
  • NG_029718.1:g.6151G>A
  • NM_002900.3:c.1037G>AMANE SELECT
  • NP_002891.1:p.Arg346His
  • NC_000010.10:g.48389841C>T
  • NM_002900.2:c.1037G>A
  • P10745:p.Arg346His
Protein change:
R346H
Links:
UniProtKB: P10745#VAR_069678; dbSNP: rs111245635
NCBI 1000 Genomes Browser:
rs111245635
Molecular consequence:
  • NM_002900.3:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001956515Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV002519875Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Benign
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956515.1

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

From Mendelics, SCV002519875.1

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

Last Updated: Oct 20, 2024