NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) AND Diamond-Blackfan anemia 3

Clinical significance:Likely benign (Last evaluated: May 21, 2020)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001267791.1

Allele description [Variation Report for NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)]

NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)

Gene:
RPS24:ribosomal protein S24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)
HGVS:
  • NC_000010.11:g.78054968C>A
  • NG_012633.1:g.26209C>A
  • NM_001142285.2:c.828C>A
  • NP_001135757.1:p.Ser276Arg
  • LRG_1145:g.26209C>A
  • NC_000010.10:g.79814726C>A
  • NM_001142285.1:c.828C>A
Protein change:
S276R
Molecular consequence:
  • NM_001142285.2:c.828C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Diamond-Blackfan anemia 3 (DBA3)
Identifiers:
MONDO: MONDO:0012529; MedGen: C1857719; Orphanet: 124; OMIM: 610629

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424109UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslinino assertion criteria providedLikely benign
(May 21, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini, SCV001424109.1

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

Last Updated: Oct 7, 2021

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