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NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) AND Diamond-Blackfan anemia 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2018
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:
RCV000696764.3

Allele description [Variation Report for NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)]

NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)

Genes:
IQCG:IQ motif containing G [Gene - OMIM - HGNC]
RPL35A:ribosomal protein L35a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)
HGVS:
  • NC_000003.12:g.197954109A>G
  • NG_011743.1:g.8929A>G
  • NG_033072.1:g.10907T>C
  • NM_000996.4:c.271A>GMANE SELECT
  • NM_001316311.2:c.271A>G
  • NM_001323028.2:c.-50+5420T>C
  • NM_001323029.2:c.-375+5420T>C
  • NM_032263.5:c.-60+5420T>CMANE SELECT
  • NP_000987.2:p.Asn91Asp
  • NP_001303240.1:p.Asn91Asp
  • LRG_1129t1:c.271A>G
  • LRG_1129:g.8929A>G
  • LRG_1129p1:p.Asn91Asp
  • NC_000003.11:g.197680980A>G
  • NM_000996.2:c.271A>G
Protein change:
N91D
Links:
dbSNP: rs1560123334
NCBI 1000 Genomes Browser:
rs1560123334
Molecular consequence:
  • NM_001323028.2:c.-50+5420T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323029.2:c.-375+5420T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032263.5:c.-60+5420T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000996.4:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316311.2:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diamond-Blackfan anemia 5 (DBA5)
Identifiers:
MONDO: MONDO:0012925; MedGen: C2675859; Orphanet: 124; OMIM: 612528

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000825341Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 19, 2018) 		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 Invitae, SCV000825341.3

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

Description

This sequence change replaces asparagine with aspartic acid at codon 91 of the RPL35A protein (p.Asn91Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPL35A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024