ClinVar Genomic variation as it relates to human health
NM_001385408.1(NBPF15):c.1383C>A (p.Ser461Arg)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001385408.1(NBPF15):c.1383C>A (p.Ser461Arg)
Variation ID: 3179674 Accession: VCV003179674.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q21.1 1: 144426333 (GRCh38) [ NCBI UCSC ] 1: 148591318 (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 May 1, 2024 May 1, 2024 Nov 8, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001385408.1:c.1383C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372337.1:p.Ser461Arg missense NM_001170755.3:c.1383C>A NP_001164226.1:p.Ser461Arg missense NM_001385373.1:c.1383C>A NP_001372302.1:p.Ser461Arg missense NM_001385374.1:c.1383C>A NP_001372303.1:p.Ser461Arg missense NM_001385375.1:c.1383C>A NP_001372304.1:p.Ser461Arg missense NM_001385376.1:c.1383C>A NP_001372305.1:p.Ser461Arg missense NM_001385377.1:c.1383C>A NP_001372306.1:p.Ser461Arg missense NM_001385378.1:c.1383C>A NP_001372307.1:p.Ser461Arg missense NM_001385403.1:c.1383C>A NP_001372332.1:p.Ser461Arg missense NM_001385404.1:c.1383C>A NP_001372333.1:p.Ser461Arg missense NM_001385405.1:c.1383C>A NP_001372334.1:p.Ser461Arg missense NM_001385406.1:c.1383C>A NP_001372335.1:p.Ser461Arg missense NM_001385407.1:c.1383C>A NP_001372336.1:p.Ser461Arg missense NM_001385409.1:c.1383C>A NP_001372338.1:p.Ser461Arg missense NM_001385410.1:c.1383C>A NP_001372339.1:p.Ser461Arg missense NM_001385411.1:c.1383C>A NP_001372340.1:p.Ser461Arg missense NM_001385412.1:c.1383C>A NP_001372341.1:p.Ser461Arg missense NM_001385413.1:c.1383C>A NP_001372342.1:p.Ser461Arg missense NM_001385414.1:c.1383C>A NP_001372343.1:p.Ser461Arg missense NM_001385415.1:c.1383C>A NP_001372344.1:p.Ser461Arg missense NM_001385416.1:c.1383C>A NP_001372345.1:p.Ser461Arg missense NM_001385417.1:c.1383C>A NP_001372346.1:p.Ser461Arg missense NM_001385418.1:c.1383C>A NP_001372347.1:p.Ser461Arg missense NM_001385419.1:c.1383C>A NP_001372348.1:p.Ser461Arg missense NM_001385420.1:c.1383C>A NP_001372349.1:p.Ser461Arg missense NM_001385421.1:c.1383C>A NP_001372350.1:p.Ser461Arg missense NM_001385422.1:c.1383C>A NP_001372351.1:p.Ser461Arg missense NM_001385423.1:c.1383C>A NP_001372352.1:p.Ser461Arg missense NM_001385424.1:c.1383C>A NP_001372353.1:p.Ser461Arg missense NM_001385425.1:c.1383C>A NP_001372354.1:p.Ser461Arg missense NM_001385426.1:c.1383C>A NP_001372355.1:p.Ser461Arg missense NM_001385427.1:c.1383C>A NP_001372356.1:p.Ser461Arg missense NM_001385428.1:c.1383C>A NP_001372357.1:p.Ser461Arg missense NM_001385429.1:c.1383C>A NP_001372358.1:p.Ser461Arg missense NM_001385430.1:c.1383C>A NP_001372359.1:p.Ser461Arg missense NM_001385431.1:c.1383C>A NP_001372360.1:p.Ser461Arg missense NM_001385432.1:c.1383C>A NP_001372361.1:p.Ser461Arg missense NM_001385433.1:c.1383C>A NP_001372362.1:p.Ser461Arg missense NM_001385434.1:c.1383C>A NP_001372363.1:p.Ser461Arg missense NM_001385435.1:c.1383C>A NP_001372364.1:p.Ser461Arg missense NM_001385436.1:c.1383C>A NP_001372365.1:p.Ser461Arg missense NM_001385437.1:c.1383C>A NP_001372366.1:p.Ser461Arg missense NM_001385438.1:c.1383C>A NP_001372367.1:p.Ser461Arg missense NM_001385439.1:c.1383C>A NP_001372368.1:p.Ser461Arg missense NM_001385440.1:c.1383C>A NP_001372369.1:p.Ser461Arg missense NM_001385441.1:c.1383C>A NP_001372370.1:p.Ser461Arg missense NM_001385442.1:c.1272C>A NP_001372371.1:p.Ser424Arg missense NM_001385443.1:c.1272C>A NP_001372372.1:p.Ser424Arg missense NM_001385444.1:c.1272C>A NP_001372373.1:p.Ser424Arg missense NM_001385445.1:c.1272C>A NP_001372374.1:p.Ser424Arg missense NM_001385446.1:c.1158C>A NP_001372375.1:p.Ser386Arg missense NM_001385447.1:c.1158C>A NP_001372376.1:p.Ser386Arg missense NM_001385448.1:c.1467C>A NP_001372377.1:p.Ser489Arg missense NM_173638.5:c.1383C>A NP_775909.2:p.Ser461Arg missense NC_000001.11:g.144426333G>T NC_000001.10:g.148591318C>A - Protein change
- S489R, S424R, S461R, S386R
- Other names
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NM_001102663.1:c.1383C>A
- Canonical SPDI
- NC_000001.11:144426332:G:T
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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
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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NBPF15 | - | - |
GRCh38 GRCh37 |
70 | 117 |
Conditions - Germline
Condition
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Nov 8, 2022 | RCV004470508.1 |
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
Help
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
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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
(Nov 08, 2022)
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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: SCV004969501.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1383C>A (p.S461R) alteration is located in exon 12 (coding exon 11) of the NBPF16 gene. This alteration results from a C to A substitution … (more)
The c.1383C>A (p.S461R) alteration is located in exon 12 (coding exon 11) of the NBPF16 gene. This alteration results from a C to A substitution at nucleotide position 1383, causing the serine (S) at amino acid position 461 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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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. |
Citations for germline classification of this variant
HelpThere 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 May 08, 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.