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NM_001014.5(RPS10):c.270G>A (p.Val90=) AND Diamond-Blackfan anemia

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jul 30, 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:
RCV002431178.6

Allele description [Variation Report for NM_001014.5(RPS10):c.270G>A (p.Val90=)]

NM_001014.5(RPS10):c.270G>A (p.Val90=)

Genes:
RPS10-NUDT3:RPS10-NUDT3 readthrough [Gene - HGNC]
RPS10:ribosomal protein S10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_001014.5(RPS10):c.270G>A (p.Val90=)
HGVS:
  • NC_000006.12:g.34424721C>T
  • NG_023200.1:g.6379G>A
  • NM_001014.5:c.270G>AMANE SELECT
  • NM_001202470.3:c.270G>A
  • NM_001203245.3:c.270G>A
  • NM_001204091.2:c.270G>A
  • NP_001005.1:p.Val90=
  • NP_001189399.1:p.Val90=
  • NP_001190174.1:p.Val90=
  • NP_001191020.1:p.Val90=
  • LRG_1138t1:c.270G>A
  • LRG_1138:g.6379G>A
  • LRG_1138p1:p.Val90=
  • NC_000006.11:g.34392498C>T
  • NM_001014.4:c.270G>A
Molecular consequence:
  • NM_001014.5:c.270G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001202470.3:c.270G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001203245.3:c.270G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001204091.2:c.270G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Diamond-Blackfan anemia
Synonyms:
Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002741385Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 6, 2022) 		germlineclinical testing

Citation Link,

SCV003484583Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jul 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Ambry Genetics, SCV002741385.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003484583.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024