This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.2043C>A (p.Ile681=)
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.
Likely benign
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001037132.4(NRCAM):c.2043C>A (p.Ile681=)
Variation ID: 3029360 Accession: VCV003029360.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108184607 (GRCh38) [ NCBI UCSC ] 7: 107825051 (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 Mar 17, 2024 Oct 8, 2024 May 18, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.2043C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Ile681= synonymous NM_001193582.2:c.2043C>A NP_001180511.1:p.Ile681= synonymous NM_001193583.2:c.1986C>A NP_001180512.1:p.Ile662= synonymous NM_001193584.2:c.1986C>A NP_001180513.1:p.Ile662= synonymous NM_001371119.1:c.1986C>A NP_001358048.1:p.Ile662= synonymous NM_001371122.1:c.1986C>A NP_001358051.1:p.Ile662= synonymous NM_001371123.1:c.2043C>A NP_001358052.1:p.Ile681= synonymous NM_001371124.1:c.1986C>A NP_001358053.1:p.Ile662= synonymous NM_001371125.1:c.1698C>A NP_001358054.1:p.Ile566= synonymous NM_001371126.1:c.1986C>A NP_001358055.1:p.Ile662= synonymous NM_001371127.1:c.2040C>A NP_001358056.1:p.Ile680= synonymous NM_001371128.1:c.2043C>A NP_001358057.1:p.Ile681= synonymous NM_001371129.1:c.1986C>A NP_001358058.1:p.Ile662= synonymous NM_001371130.1:c.1995C>A NP_001358059.1:p.Ile665= synonymous NM_001371131.1:c.2043C>A NP_001358060.1:p.Ile681= synonymous NM_001371132.1:c.1986C>A NP_001358061.1:p.Ile662= synonymous NM_001371133.1:c.1995C>A NP_001358062.1:p.Ile665= synonymous NM_001371134.1:c.1992C>A NP_001358063.1:p.Ile664= synonymous NM_001371135.1:c.1986C>A NP_001358064.1:p.Ile662= synonymous NM_001371136.1:c.1995C>A NP_001358065.1:p.Ile665= synonymous NM_001371137.1:c.1086C>A NP_001358066.1:p.Ile362= synonymous NM_001371138.1:c.2043C>A NP_001358067.1:p.Ile681= synonymous NM_001371139.1:c.1986C>A NP_001358068.1:p.Ile662= synonymous NM_001371140.1:c.1986C>A NP_001358069.1:p.Ile662= synonymous NM_001371141.1:c.1986C>A NP_001358070.1:p.Ile662= synonymous NM_001371142.1:c.1698C>A NP_001358071.1:p.Ile566= synonymous NM_001371143.1:c.1698C>A NP_001358072.1:p.Ile566= synonymous NM_001371144.1:c.2043C>A NP_001358073.1:p.Ile681= synonymous NM_001371145.1:c.1986C>A NP_001358074.1:p.Ile662= synonymous NM_001371146.1:c.1986C>A NP_001358075.1:p.Ile662= synonymous NM_001371147.1:c.1698C>A NP_001358076.1:p.Ile566= synonymous NM_001371148.1:c.1725C>A NP_001358077.1:p.Ile575= synonymous NM_001371149.1:c.2043C>A NP_001358078.1:p.Ile681= synonymous NM_001371150.1:c.2013C>A NP_001358079.1:p.Ile671= synonymous NM_001371151.1:c.1995C>A NP_001358080.1:p.Ile665= synonymous NM_001371152.1:c.1995C>A NP_001358081.1:p.Ile665= synonymous NM_001371153.1:c.2043C>A NP_001358082.1:p.Ile681= synonymous NM_001371154.1:c.1986C>A NP_001358083.1:p.Ile662= synonymous NM_001371155.1:c.1986C>A NP_001358084.1:p.Ile662= synonymous NM_001371156.1:c.2043C>A NP_001358085.1:p.Ile681= synonymous NM_001371157.1:c.1995C>A NP_001358086.1:p.Ile665= synonymous NM_001371158.1:c.1986C>A NP_001358087.1:p.Ile662= synonymous NM_001371159.1:c.2013C>A NP_001358088.1:p.Ile671= synonymous NM_001371160.1:c.2025C>A NP_001358089.1:p.Ile675= synonymous NM_001371161.1:c.2043C>A NP_001358090.1:p.Ile681= synonymous NM_001371162.1:c.1986C>A NP_001358091.1:p.Ile662= synonymous NM_001371163.1:c.1986C>A NP_001358092.1:p.Ile662= synonymous NM_001371164.1:c.1698C>A NP_001358093.1:p.Ile566= synonymous NM_001371165.1:c.1986C>A NP_001358094.1:p.Ile662= synonymous NM_001371166.1:c.1986C>A NP_001358095.1:p.Ile662= synonymous NM_001371167.1:c.1986C>A NP_001358096.1:p.Ile662= synonymous NM_001371168.1:c.2043C>A NP_001358097.1:p.Ile681= synonymous NM_001371169.1:c.2043C>A NP_001358098.1:p.Ile681= synonymous NM_001371170.1:c.1725C>A NP_001358099.1:p.Ile575= synonymous NM_001371171.1:c.1995C>A NP_001358100.1:p.Ile665= synonymous NM_001371172.1:c.1986C>A NP_001358101.1:p.Ile662= synonymous NM_001371173.1:c.2043C>A NP_001358102.1:p.Ile681= synonymous NM_001371174.1:c.2013C>A NP_001358103.1:p.Ile671= synonymous NM_001371175.1:c.1995C>A NP_001358104.1:p.Ile665= synonymous NM_001371176.1:c.1995C>A NP_001358105.1:p.Ile665= synonymous NM_001371177.1:c.1986C>A NP_001358106.1:p.Ile662= synonymous NM_001371178.1:c.1995C>A NP_001358107.1:p.Ile665= synonymous NM_001371179.1:c.1725C>A NP_001358108.1:p.Ile575= synonymous NM_001371180.1:c.1725C>A NP_001358109.1:p.Ile575= synonymous NM_001371181.1:c.1986C>A NP_001358110.1:p.Ile662= synonymous NM_001371182.1:c.1938C>A NP_001358111.1:p.Ile646= synonymous NM_005010.5:c.1995C>A NP_005001.3:p.Ile665= synonymous NR_163867.1:n.2511C>A non-coding transcript variant NR_163868.1:n.2511C>A non-coding transcript variant NR_163869.1:n.2511C>A non-coding transcript variant NR_163870.1:n.2592C>A non-coding transcript variant NR_163871.1:n.2590C>A non-coding transcript variant NC_000007.14:g.108184607G>T NC_000007.13:g.107825051G>T NG_029898.2:g.277111C>A - Protein change
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- Other names
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- Canonical SPDI
- NC_000007.14:108184606: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. |
|||
| NRCAM | - | - |
GRCh38 GRCh37 |
122 | 147 | |
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. |
|---|---|---|---|---|
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NRCAM-related disorder
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Likely benign (1) |
no assertion criteria provided
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May 18, 2021 | RCV004539252.2 |
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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|---|---|---|---|---|---|
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Likely benign
(May 18, 2021)
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no assertion criteria provided
Method: clinical testing
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NRCAM-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004711935.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
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:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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 Nov 25, 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.