The c.112G>C (p.D38H) alteration is located in exon 4 (coding exon 3) of the N4BP2L2 gene. This alteration results from a G to C substitution at nucleotide position 112, causing the aspartic acid (D) at amino acid position 38 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_014887.3(N4BP2L2):c.1399G>C (p.Asp467His)
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)
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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_014887.3(N4BP2L2):c.1399G>C (p.Asp467His)
Variation ID: 3170899 Accession: VCV003170899.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32522256 (GRCh38) [ NCBI UCSC ] 13: 33096393 (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 Feb 28, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_014887.3:c.1399G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_055702.1:p.Asp467His missense NM_001278432.2:c.67G>C NP_001265361.1:p.Asp23His missense NM_001320836.3:c.1399G>C NP_001307765.1:p.Asp467His missense NM_001387001.1:c.1399G>C NP_001373930.1:p.Asp467His missense NM_001387002.1:c.1399G>C NP_001373931.1:p.Asp467His missense NM_001387004.1:c.1260-4253G>C intron variant NM_001387005.1:c.1259+13513G>C intron variant NM_001387006.1:c.1259+13513G>C intron variant NM_001387008.1:c.160G>C NP_001373937.1:p.Asp54His missense NM_001387009.1:c.160G>C NP_001373938.1:p.Asp54His missense NM_001387015.1:c.67G>C NP_001373944.1:p.Asp23His missense NM_001387016.1:c.-40-4253G>C intron variant NM_001387017.1:c.1260-4253G>C intron variant NM_001387018.1:c.67G>C NP_001373947.1:p.Asp23His missense NM_001387019.1:c.67G>C NP_001373948.1:p.Asp23His missense NM_001387020.1:c.-54G>C 5 prime UTR NM_001387059.1:c.106G>C NP_001373988.1:p.Asp36His missense NM_001387060.1:c.1260-4253G>C intron variant NM_001387079.1:c.1260-4253G>C intron variant NM_001387080.1:c.1399G>C NP_001374009.1:p.Asp467His missense NM_001387081.1:c.235G>C NP_001374010.1:p.Asp79His missense NM_001387082.1:c.1399G>C NP_001374011.1:p.Asp467His missense NM_001387083.1:c.160G>C NP_001374012.1:p.Asp54His missense NM_001387099.1:c.67G>C NP_001374028.1:p.Asp23His missense NM_001387100.1:c.160G>C NP_001374029.1:p.Asp54His missense NM_001387101.1:c.1399G>C NP_001374030.1:p.Asp467His missense NM_001387102.1:c.1399G>C NP_001374031.1:p.Asp467His missense NM_001387103.1:c.1399G>C NP_001374032.1:p.Asp467His missense NM_001387104.1:c.1385-4253G>C intron variant NM_001387105.1:c.1260-4253G>C intron variant NM_001387106.1:c.1260-4253G>C intron variant NM_001387107.1:c.1385-807G>C intron variant NM_001387108.1:c.1385-807G>C intron variant NM_001387165.1:c.112G>C NP_001374094.1:p.Asp38His missense NM_001387223.1:c.160G>C NP_001374152.1:p.Asp54His missense NM_001387224.1:c.235G>C NP_001374153.1:p.Asp79His missense NM_001387225.1:c.415G>C NP_001374154.1:p.Asp139His missense NM_001395224.1:c.146-4253G>C intron variant NM_033111.5:c.112G>C NP_149102.3:p.Asp38His missense NR_170379.1:n.1417G>C non-coding transcript variant NR_170381.1:n.1577G>C non-coding transcript variant NR_170382.1:n.1512G>C non-coding transcript variant NR_170383.1:n.1577G>C non-coding transcript variant NR_170387.1:n.1577G>C non-coding transcript variant NR_170388.1:n.1527G>C non-coding transcript variant NR_170544.1:n.1434G>C non-coding transcript variant NR_170545.1:n.1367G>C non-coding transcript variant NR_170546.1:n.1562G>C non-coding transcript variant NR_170547.1:n.1534G>C non-coding transcript variant NR_170548.1:n.158G>C non-coding transcript variant NR_170549.1:n.1462G>C non-coding transcript variant NR_170551.1:n.1359G>C non-coding transcript variant NR_170552.1:n.108G>C non-coding transcript variant NR_170554.1:n.275G>C non-coding transcript variant NR_170555.1:n.1627G>C non-coding transcript variant NR_170556.1:n.253G>C non-coding transcript variant NR_170558.1:n.1387G>C non-coding transcript variant NC_000013.11:g.32522256C>G NC_000013.10:g.33096393C>G - Protein change
- D139H, D467H, D54H, D36H, D38H, D23H, D79H
- Other names
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- Canonical SPDI
- NC_000013.11:32522255:C:G
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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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| N4BP2L2 | - | - |
GRCh38 GRCh37 |
10 | 63 | |
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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Feb 28, 2024 | RCV004463310.1 |
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
(Feb 28, 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: SCV004958758.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.112G>C (p.D38H) alteration is located in exon 4 (coding exon 3) of the N4BP2L2 gene. This alteration results from a G to C substitution … (more)
The c.112G>C (p.D38H) alteration is located in exon 4 (coding exon 3) of the N4BP2L2 gene. This alteration results from a G to C substitution at nucleotide position 112, causing the aspartic acid (D) at amino acid position 38 to be replaced by a histidine (H). 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.112G>C (p.D38H) alteration is located in exon 4 (coding exon 3) of the N4BP2L2 gene. This alteration results from a G to C substitution at nucleotide position 112, causing the aspartic acid (D) at amino acid position 38 to be replaced by a histidine (H). 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.