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NM_001031.5(RPS28):c.1A>G (p.Met1Val) AND Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jun 8, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000167573.13

Allele description [Variation Report for NM_001031.5(RPS28):c.1A>G (p.Met1Val)]

NM_001031.5(RPS28):c.1A>G (p.Met1Val)

Gene:
RPS28:ribosomal protein S28 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001031.5(RPS28):c.1A>G (p.Met1Val)
HGVS:
  • NC_000019.10:g.8321531A>G
  • NG_028213.2:g.4866T>C
  • NG_050637.1:g.5032A>G
  • NM_001031.5:c.1A>GMANE SELECT
  • NP_001022.1:p.Met1Val
  • NC_000019.9:g.8386415A>G
  • NM_001031.4:c.1A>G
Protein change:
M1V; MET1VAL
Links:
OMIM: 603685.0001; dbSNP: rs786203997
NCBI 1000 Genomes Browser:
rs786203997
Molecular consequence:
  • NM_001031.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001031.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)
Identifiers:
MONDO: MONDO:0011639; MedGen: C4225411; Orphanet: 124; OMIM: 606164

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000218453OMIM
no assertion criteria provided
Pathogenic
(Mar 14, 2018)
germlineliterature only

Gripp, K. W., Curry, C., Olney, A. H., Sandoval, C., Fisher, J., Chong, J. X.-L., UW Center for Mendelian Genomics, Pilchman, L., Sahraoui, R., Stabley, D. L., Sol-Church, K. Diamond-Blackfan anemia with mandibulofacial dystostosis (sic) is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am. J. Med. Genet. 164A: 2240-2249, 2014.,

SCV000246138University of Washington Center for Mendelian Genomics, University of Washington
criteria provided, single submitter

(Submitter's publication)
Pathogenic
(May 19, 2015)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV002526122Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 8, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics., Pilchman L, Sahraoui R, Stabley DL, Sol-Church K.

Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.

PubMed [citation]
PMID:
24942156
PMCID:
PMC4149220

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000218453.3

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

Description

In 2 unrelated girls (patients 4 and 5) with Diamond-Blackfan anemia-15 and mandibulofacial dysostosis (DBA15; 606164), Gripp et al. (2014) identified the same de novo heterozygous c.1A-G transition affecting the translation initiation codon of the RPS28 gene (met1 to val), predicted to result in haploinsufficiency. The mutation was found by sequencing of candidate ribosomal protein genes. One of the patients had loss of the mutant allele and SNPs on 19p in peripheral blood cells, but not in buccal DNA, whereas the other patient had loss of the mutant allele and SNPs on 19p in buccal DNA only. It was not known whether this tissue-specific allelic imbalance contributed to the clinical presentation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000246138.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Institute of Human Genetics, University Hospital Muenster, SCV002526122.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PVS1,PS1,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: May 19, 2024