The c.1822C>A (p.L608M) alteration is located in exon 16 (coding exon 15) of the NBPF16 gene. This alteration results from a C to A substitution at nucleotide position 1822, causing the leucine (L) at amino acid position 608 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001385408.1(NBPF15):c.1822C>A (p.Leu608Met)
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_001385408.1(NBPF15):c.1822C>A (p.Leu608Met)
Variation ID: 3179719 Accession: VCV003179719.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q21.1 1: 144423204 (GRCh38) [ NCBI UCSC ] 1: 148594449 (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 Dec 12, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385408.1:c.1822C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372337.1:p.Leu608Met missense NM_001170755.3:c.1822C>A NP_001164226.1:p.Leu608Met missense NM_001385373.1:c.1822C>A NP_001372302.1:p.Leu608Met missense NM_001385374.1:c.1822C>A NP_001372303.1:p.Leu608Met missense NM_001385375.1:c.1822C>A NP_001372304.1:p.Leu608Met missense NM_001385376.1:c.1822C>A NP_001372305.1:p.Leu608Met missense NM_001385377.1:c.1822C>A NP_001372306.1:p.Leu608Met missense NM_001385378.1:c.1822C>A NP_001372307.1:p.Leu608Met missense NM_001385403.1:c.1822C>A NP_001372332.1:p.Leu608Met missense NM_001385404.1:c.1822C>A NP_001372333.1:p.Leu608Met missense NM_001385405.1:c.1822C>A NP_001372334.1:p.Leu608Met missense NM_001385406.1:c.1822C>A NP_001372335.1:p.Leu608Met missense NM_001385407.1:c.1822C>A NP_001372336.1:p.Leu608Met missense NM_001385409.1:c.1822C>A NP_001372338.1:p.Leu608Met missense NM_001385410.1:c.1822C>A NP_001372339.1:p.Leu608Met missense NM_001385411.1:c.1822C>A NP_001372340.1:p.Leu608Met missense NM_001385412.1:c.1822C>A NP_001372341.1:p.Leu608Met missense NM_001385413.1:c.1822C>A NP_001372342.1:p.Leu608Met missense NM_001385414.1:c.1822C>A NP_001372343.1:p.Leu608Met missense NM_001385415.1:c.1822C>A NP_001372344.1:p.Leu608Met missense NM_001385416.1:c.1822C>A NP_001372345.1:p.Leu608Met missense NM_001385417.1:c.1822C>A NP_001372346.1:p.Leu608Met missense NM_001385418.1:c.1822C>A NP_001372347.1:p.Leu608Met missense NM_001385419.1:c.1822C>A NP_001372348.1:p.Leu608Met missense NM_001385420.1:c.1822C>A NP_001372349.1:p.Leu608Met missense NM_001385421.1:c.1822C>A NP_001372350.1:p.Leu608Met missense NM_001385422.1:c.1822C>A NP_001372351.1:p.Leu608Met missense NM_001385423.1:c.1822C>A NP_001372352.1:p.Leu608Met missense NM_001385424.1:c.1822C>A NP_001372353.1:p.Leu608Met missense NM_001385425.1:c.1822C>A NP_001372354.1:p.Leu608Met missense NM_001385426.1:c.1822C>A NP_001372355.1:p.Leu608Met missense NM_001385427.1:c.1822C>A NP_001372356.1:p.Leu608Met missense NM_001385428.1:c.1822C>A NP_001372357.1:p.Leu608Met missense NM_001385429.1:c.1822C>A NP_001372358.1:p.Leu608Met missense NM_001385430.1:c.1822C>A NP_001372359.1:p.Leu608Met missense NM_001385431.1:c.1822C>A NP_001372360.1:p.Leu608Met missense NM_001385432.1:c.1822C>A NP_001372361.1:p.Leu608Met missense NM_001385433.1:c.1822C>A NP_001372362.1:p.Leu608Met missense NM_001385434.1:c.1822C>A NP_001372363.1:p.Leu608Met missense NM_001385435.1:c.1822C>A NP_001372364.1:p.Leu608Met missense NM_001385436.1:c.1822C>A NP_001372365.1:p.Leu608Met missense NM_001385437.1:c.1822C>A NP_001372366.1:p.Leu608Met missense NM_001385438.1:c.1822C>A NP_001372367.1:p.Leu608Met missense NM_001385439.1:c.1822C>A NP_001372368.1:p.Leu608Met missense NM_001385440.1:c.1822C>A NP_001372369.1:p.Leu608Met missense NM_001385441.1:c.1822C>A NP_001372370.1:p.Leu608Met missense NM_001385442.1:c.1711C>A NP_001372371.1:p.Leu571Met missense NM_001385443.1:c.1711C>A NP_001372372.1:p.Leu571Met missense NM_001385444.1:c.1711C>A NP_001372373.1:p.Leu571Met missense NM_001385445.1:c.1711C>A NP_001372374.1:p.Leu571Met missense NM_001385446.1:c.1597C>A NP_001372375.1:p.Leu533Met missense NM_001385447.1:c.1597C>A NP_001372376.1:p.Leu533Met missense NM_001385448.1:c.1906C>A NP_001372377.1:p.Leu636Met missense NM_173638.5:c.1822C>A NP_775909.2:p.Leu608Met missense NC_000001.11:g.144423204G>T NC_000001.10:g.148594449C>A - Protein change
- L533M, L608M, L636M, L571M
- Other names
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NM_001102663.1:c.1822C>A
- Canonical SPDI
- NC_000001.11:144423203: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
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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| NBPF15 | - | - |
GRCh38 GRCh37 |
70 | 117 | |
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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Dec 12, 2023 | RCV004470553.1 |
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
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
(Dec 12, 2023)
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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: SCV004969546.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1822C>A (p.L608M) alteration is located in exon 16 (coding exon 15) of the NBPF16 gene. This alteration results from a C to A substitution … (more)
The c.1822C>A (p.L608M) alteration is located in exon 16 (coding exon 15) of the NBPF16 gene. This alteration results from a C to A substitution at nucleotide position 1822, causing the leucine (L) at amino acid position 608 to be replaced by a methionine (M). 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.1822C>A (p.L608M) alteration is located in exon 16 (coding exon 15) of the NBPF16 gene. This alteration results from a C to A substitution at nucleotide position 1822, causing the leucine (L) at amino acid position 608 to be replaced by a methionine (M). 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 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.