The c.584G>A (p.R195Q) alteration is located in exon 4 (coding exon 4) of the MBNL1 gene. This alteration results from a G to A substitution at nucleotide position 584, causing the arginine (R) at amino acid position 195 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_021038.5(MBNL1):c.584G>A (p.Arg195Gln)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_021038.5(MBNL1):c.584G>A (p.Arg195Gln)
Variation ID: 3293545 Accession: VCV003293545.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3q25.2 3: 152445316 (GRCh38) [ NCBI UCSC ] 3: 152163105 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 11, 2024 Aug 11, 2024 May 30, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_021038.5:c.584G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066368.2:p.Arg195Gln missense NM_001314057.2:c.413G>A NP_001300986.1:p.Arg138Gln missense NM_001363870.1:c.584G>A NP_001350799.1:p.Arg195Gln missense NM_001376818.1:c.677G>A NP_001363747.1:p.Arg226Gln missense NM_001376819.1:c.677G>A NP_001363748.1:p.Arg226Gln missense NM_001376820.1:c.584G>A NP_001363749.1:p.Arg195Gln missense NM_001376821.1:c.584G>A NP_001363750.1:p.Arg195Gln missense NM_001376822.1:c.584G>A NP_001363751.1:p.Arg195Gln missense NM_001376823.1:c.584G>A NP_001363752.1:p.Arg195Gln missense NM_001376824.1:c.584G>A NP_001363753.1:p.Arg195Gln missense NM_001376825.1:c.584G>A NP_001363754.1:p.Arg195Gln missense NM_001376826.1:c.584G>A NP_001363755.1:p.Arg195Gln missense NM_001376827.1:c.584G>A NP_001363756.1:p.Arg195Gln missense NM_001376828.1:c.584G>A NP_001363757.1:p.Arg195Gln missense NM_001376829.1:c.584G>A NP_001363758.1:p.Arg195Gln missense NM_001376830.1:c.584G>A NP_001363759.1:p.Arg195Gln missense NM_001376831.1:c.584G>A NP_001363760.1:p.Arg195Gln missense NM_001376832.1:c.584G>A NP_001363761.1:p.Arg195Gln missense NM_001376833.1:c.584G>A NP_001363762.1:p.Arg195Gln missense NM_001376834.1:c.584G>A NP_001363763.1:p.Arg195Gln missense NM_001376835.1:c.584G>A NP_001363764.1:p.Arg195Gln missense NM_001376836.1:c.584G>A NP_001363765.1:p.Arg195Gln missense NM_001376837.1:c.416G>A NP_001363766.1:p.Arg139Gln missense NM_001376838.1:c.380G>A NP_001363767.1:p.Arg127Gln missense NM_001376839.1:c.308G>A NP_001363768.1:p.Arg103Gln missense NM_001376840.1:c.308G>A NP_001363769.1:p.Arg103Gln missense NM_001376841.1:c.308G>A NP_001363770.1:p.Arg103Gln missense NM_001376842.1:c.308G>A NP_001363771.1:p.Arg103Gln missense NM_001376843.1:c.308G>A NP_001363772.1:p.Arg103Gln missense NM_001376844.1:c.308G>A NP_001363773.1:p.Arg103Gln missense NM_001376845.1:c.308G>A NP_001363774.1:p.Arg103Gln missense NM_001376846.1:c.308G>A NP_001363775.1:p.Arg103Gln missense NM_001376847.1:c.236G>A NP_001363776.1:p.Arg79Gln missense NM_001376848.1:c.308G>A NP_001363777.1:p.Arg103Gln missense NM_001376849.1:c.308G>A NP_001363778.1:p.Arg103Gln missense NM_001376851.1:c.308G>A NP_001363780.1:p.Arg103Gln missense NM_001376853.1:c.380G>A NP_001363782.1:p.Arg127Gln missense NM_001387781.1:c.677G>A NP_001374710.1:p.Arg226Gln missense NM_001387782.1:c.677G>A NP_001374711.1:p.Arg226Gln missense NM_001387783.1:c.677G>A NP_001374712.1:p.Arg226Gln missense NM_001387784.1:c.677G>A NP_001374713.1:p.Arg226Gln missense NM_001387785.1:c.584G>A NP_001374714.1:p.Arg195Gln missense NM_001387786.1:c.584G>A NP_001374715.1:p.Arg195Gln missense NM_001387787.1:c.584G>A NP_001374716.1:p.Arg195Gln missense NM_001387788.1:c.584G>A NP_001374717.1:p.Arg195Gln missense NM_001387789.1:c.584G>A NP_001374718.1:p.Arg195Gln missense NM_001387790.1:c.584G>A NP_001374719.1:p.Arg195Gln missense NM_001387791.1:c.416G>A NP_001374720.1:p.Arg139Gln missense NM_001387792.1:c.584G>A NP_001374721.1:p.Arg195Gln missense NM_001387793.1:c.584G>A NP_001374722.1:p.Arg195Gln missense NM_001387794.1:c.380G>A NP_001374723.1:p.Arg127Gln missense NM_001387795.1:c.380G>A NP_001374724.1:p.Arg127Gln missense NM_001387796.1:c.584G>A NP_001374725.1:p.Arg195Gln missense NM_001387797.1:c.416G>A NP_001374726.1:p.Arg139Gln missense NM_001387798.1:c.416G>A NP_001374727.1:p.Arg139Gln missense NM_001387799.1:c.416G>A NP_001374728.1:p.Arg139Gln missense NM_001387800.1:c.413G>A NP_001374729.1:p.Arg138Gln missense NM_001387801.1:c.380G>A NP_001374730.1:p.Arg127Gln missense NM_001387802.1:c.380G>A NP_001374731.1:p.Arg127Gln missense NM_001387803.1:c.416G>A NP_001374732.1:p.Arg139Gln missense NM_001387804.1:c.308G>A NP_001374733.1:p.Arg103Gln missense NM_001387805.1:c.308G>A NP_001374734.1:p.Arg103Gln missense NM_001387806.1:c.308G>A NP_001374735.1:p.Arg103Gln missense NM_001387807.1:c.308G>A NP_001374736.1:p.Arg103Gln missense NM_001387808.1:c.308G>A NP_001374737.1:p.Arg103Gln missense NM_001387809.1:c.308G>A NP_001374738.1:p.Arg103Gln missense NM_001387810.1:c.308G>A NP_001374739.1:p.Arg103Gln missense NM_001387811.1:c.308G>A NP_001374740.1:p.Arg103Gln missense NM_001387812.1:c.308G>A NP_001374741.1:p.Arg103Gln missense NM_001387813.1:c.308G>A NP_001374742.1:p.Arg103Gln missense NM_001387814.1:c.308G>A NP_001374743.1:p.Arg103Gln missense NM_001387815.1:c.308G>A NP_001374744.1:p.Arg103Gln missense NM_001387816.1:c.308G>A NP_001374745.1:p.Arg103Gln missense NM_001387817.1:c.308G>A NP_001374746.1:p.Arg103Gln missense NM_001387818.1:c.308G>A NP_001374747.1:p.Arg103Gln missense NM_001387819.1:c.584G>A NP_001374748.1:p.Arg195Gln missense NM_001387820.1:c.380G>A NP_001374749.1:p.Arg127Gln missense NM_001387821.1:c.236G>A NP_001374750.1:p.Arg79Gln missense NM_001387822.1:c.308G>A NP_001374751.1:p.Arg103Gln missense NM_001387823.1:c.308G>A NP_001374752.1:p.Arg103Gln missense NM_001387824.1:c.308G>A NP_001374753.1:p.Arg103Gln missense NM_001387825.1:c.308G>A NP_001374754.1:p.Arg103Gln missense NM_001387826.1:c.308G>A NP_001374755.1:p.Arg103Gln missense NM_001387827.1:c.104G>A NP_001374756.1:p.Arg35Gln missense NM_001387828.1:c.104G>A NP_001374757.1:p.Arg35Gln missense NM_001387829.1:c.104G>A NP_001374758.1:p.Arg35Gln missense NM_001387830.1:c.308G>A NP_001374759.1:p.Arg103Gln missense NM_001387831.1:c.104G>A NP_001374760.1:p.Arg35Gln missense NM_001387832.1:c.104G>A NP_001374761.1:p.Arg35Gln missense NM_001387833.1:c.104G>A NP_001374762.1:p.Arg35Gln missense NM_001387834.1:c.-44G>A 5 prime UTR NM_207292.3:c.584G>A NP_997175.1:p.Arg195Gln missense NM_207293.2:c.584G>A NP_997176.1:p.Arg195Gln missense NM_207294.2:c.380G>A NP_997177.1:p.Arg127Gln missense NM_207295.2:c.380G>A NP_997178.1:p.Arg127Gln missense NM_207296.2:c.584G>A NP_997179.1:p.Arg195Gln missense NM_207297.2:c.584G>A NP_997180.1:p.Arg195Gln missense NR_164857.1:n.1630G>A non-coding transcript variant NR_164858.1:n.1537G>A non-coding transcript variant NR_164860.1:n.1537G>A non-coding transcript variant NR_164861.1:n.1537G>A non-coding transcript variant NR_164862.1:n.1614G>A non-coding transcript variant NR_164863.1:n.1614G>A non-coding transcript variant NR_164864.1:n.574G>A non-coding transcript variant NR_164865.1:n.1614G>A non-coding transcript variant NR_170696.1:n.1537G>A non-coding transcript variant NR_170697.1:n.1794G>A non-coding transcript variant NR_170698.1:n.1537G>A non-coding transcript variant NR_170700.1:n.1537G>A non-coding transcript variant NR_170701.1:n.1410G>A non-coding transcript variant NR_170702.1:n.1614G>A non-coding transcript variant NR_170703.1:n.1614G>A non-coding transcript variant NC_000003.12:g.152445316G>A NC_000003.11:g.152163105G>A NG_047058.1:g.205996G>A - Protein change
- R138Q, R79Q, R139Q, R35Q, R103Q, R127Q, R195Q, R226Q
- Other names
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- Canonical SPDI
- NC_000003.12:152445315:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| MBNL1 | - | - |
GRCh38 GRCh37 |
15 | 36 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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May 30, 2024 | RCV004637761.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(May 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005132410.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.584G>A (p.R195Q) alteration is located in exon 4 (coding exon 4) of the MBNL1 gene. This alteration results from a G to A substitution … (more)
The c.584G>A (p.R195Q) alteration is located in exon 4 (coding exon 4) of the MBNL1 gene. This alteration results from a G to A substitution at nucleotide position 584, causing the arginine (R) at amino acid position 195 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.584G>A (p.R195Q) alteration is located in exon 4 (coding exon 4) of the MBNL1 gene. This alteration results from a G to A substitution at nucleotide position 584, causing the arginine (R) at amino acid position 195 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.