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NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2023
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:
RCV003848663.1

Allele description

NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)

Genes:
RNF213-AS1:RNF213 antisense RNA 1 [Gene - HGNC]
RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)
HGVS:
  • NC_000017.11:g.80354031G>A
  • NG_031980.2:g.98171G>A
  • NM_001256071.3:c.10591G>AMANE SELECT
  • NM_001410195.1:c.10738G>A
  • NM_020914.5:c.10738G>A
  • NP_001243000.2:p.Asp3531Asn
  • NP_001397124.1:p.Asp3580Asn
  • NP_065965.5:p.Asp3580Asn
  • NC_000017.10:g.78327831G>A
  • NR_029376.1:n.1498C>T
Protein change:
D3531N
Molecular consequence:
  • NM_001256071.3:c.10591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410195.1:c.10738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020914.5:c.10738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_029376.1:n.1498C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004648397Invitae
    criteria provided, single submitter

    (Invitae Variant Classification Sherloc (09022015))    		Uncertain significance
    (May 12, 2023)     		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, SCV004648397.1

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

    Description

    This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3531 of the RNF213 protein (p.Asp3531Asn). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with RNF213-related conditions. This variant is present in population databases (rs755091431, gnomAD 0.01%).

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

    Last Updated: Mar 5, 2024