ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys)
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_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys)
Variation ID: 623458 Accession: VCV000623458.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108182814 (GRCh38) [ NCBI UCSC ] 7: 107823258 (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 Jun 22, 2019 Jun 22, 2019 Dec 17, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.2411C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Ser804Cys missense NM_001193582.2:c.2411C>G NP_001180511.1:p.Ser804Cys missense NM_001193583.2:c.2354C>G NP_001180512.1:p.Ser785Cys missense NM_001193584.2:c.2354C>G NP_001180513.1:p.Ser785Cys missense NM_001371119.1:c.2354C>G NP_001358048.1:p.Ser785Cys missense NM_001371122.1:c.2354C>G NP_001358051.1:p.Ser785Cys missense NM_001371123.1:c.2411C>G NP_001358052.1:p.Ser804Cys missense NM_001371124.1:c.2354C>G NP_001358053.1:p.Ser785Cys missense NM_001371125.1:c.2066C>G NP_001358054.1:p.Ser689Cys missense NM_001371126.1:c.2354C>G NP_001358055.1:p.Ser785Cys missense NM_001371127.1:c.2408C>G NP_001358056.1:p.Ser803Cys missense NM_001371128.1:c.2411C>G NP_001358057.1:p.Ser804Cys missense NM_001371129.1:c.2354C>G NP_001358058.1:p.Ser785Cys missense NM_001371130.1:c.2363C>G NP_001358059.1:p.Ser788Cys missense NM_001371131.1:c.2411C>G NP_001358060.1:p.Ser804Cys missense NM_001371132.1:c.2354C>G NP_001358061.1:p.Ser785Cys missense NM_001371133.1:c.2363C>G NP_001358062.1:p.Ser788Cys missense NM_001371134.1:c.2360C>G NP_001358063.1:p.Ser787Cys missense NM_001371135.1:c.2354C>G NP_001358064.1:p.Ser785Cys missense NM_001371136.1:c.2363C>G NP_001358065.1:p.Ser788Cys missense NM_001371137.1:c.1454C>G NP_001358066.1:p.Ser485Cys missense NM_001371138.1:c.2411C>G NP_001358067.1:p.Ser804Cys missense NM_001371139.1:c.2354C>G NP_001358068.1:p.Ser785Cys missense NM_001371140.1:c.2354C>G NP_001358069.1:p.Ser785Cys missense NM_001371141.1:c.2354C>G NP_001358070.1:p.Ser785Cys missense NM_001371142.1:c.2066C>G NP_001358071.1:p.Ser689Cys missense NM_001371143.1:c.2066C>G NP_001358072.1:p.Ser689Cys missense NM_001371144.1:c.2411C>G NP_001358073.1:p.Ser804Cys missense NM_001371145.1:c.2354C>G NP_001358074.1:p.Ser785Cys missense NM_001371146.1:c.2354C>G NP_001358075.1:p.Ser785Cys missense NM_001371147.1:c.2066C>G NP_001358076.1:p.Ser689Cys missense NM_001371148.1:c.2093C>G NP_001358077.1:p.Ser698Cys missense NM_001371149.1:c.2411C>G NP_001358078.1:p.Ser804Cys missense NM_001371150.1:c.2381C>G NP_001358079.1:p.Ser794Cys missense NM_001371151.1:c.2363C>G NP_001358080.1:p.Ser788Cys missense NM_001371152.1:c.2363C>G NP_001358081.1:p.Ser788Cys missense NM_001371153.1:c.2411C>G NP_001358082.1:p.Ser804Cys missense NM_001371154.1:c.2354C>G NP_001358083.1:p.Ser785Cys missense NM_001371155.1:c.2354C>G NP_001358084.1:p.Ser785Cys missense NM_001371156.1:c.2411C>G NP_001358085.1:p.Ser804Cys missense NM_001371157.1:c.2363C>G NP_001358086.1:p.Ser788Cys missense NM_001371158.1:c.2354C>G NP_001358087.1:p.Ser785Cys missense NM_001371159.1:c.2381C>G NP_001358088.1:p.Ser794Cys missense NM_001371160.1:c.2393C>G NP_001358089.1:p.Ser798Cys missense NM_001371161.1:c.2411C>G NP_001358090.1:p.Ser804Cys missense NM_001371162.1:c.2354C>G NP_001358091.1:p.Ser785Cys missense NM_001371163.1:c.2354C>G NP_001358092.1:p.Ser785Cys missense NM_001371164.1:c.2066C>G NP_001358093.1:p.Ser689Cys missense NM_001371165.1:c.2354C>G NP_001358094.1:p.Ser785Cys missense NM_001371166.1:c.2354C>G NP_001358095.1:p.Ser785Cys missense NM_001371167.1:c.2354C>G NP_001358096.1:p.Ser785Cys missense NM_001371168.1:c.2411C>G NP_001358097.1:p.Ser804Cys missense NM_001371169.1:c.2411C>G NP_001358098.1:p.Ser804Cys missense NM_001371170.1:c.2093C>G NP_001358099.1:p.Ser698Cys missense NM_001371171.1:c.2363C>G NP_001358100.1:p.Ser788Cys missense NM_001371172.1:c.2354C>G NP_001358101.1:p.Ser785Cys missense NM_001371173.1:c.2411C>G NP_001358102.1:p.Ser804Cys missense NM_001371174.1:c.2381C>G NP_001358103.1:p.Ser794Cys missense NM_001371175.1:c.2363C>G NP_001358104.1:p.Ser788Cys missense NM_001371176.1:c.2363C>G NP_001358105.1:p.Ser788Cys missense NM_001371177.1:c.2354C>G NP_001358106.1:p.Ser785Cys missense NM_001371178.1:c.2363C>G NP_001358107.1:p.Ser788Cys missense NM_001371179.1:c.2093C>G NP_001358108.1:p.Ser698Cys missense NM_001371180.1:c.2093C>G NP_001358109.1:p.Ser698Cys missense NM_001371181.1:c.2354C>G NP_001358110.1:p.Ser785Cys missense NM_001371182.1:c.2306C>G NP_001358111.1:p.Ser769Cys missense NM_005010.5:c.2363C>G NP_005001.3:p.Ser788Cys missense NR_163867.1:n.2879C>G non-coding transcript variant NR_163868.1:n.2879C>G non-coding transcript variant NR_163869.1:n.2879C>G non-coding transcript variant NR_163870.1:n.2960C>G non-coding transcript variant NR_163871.1:n.2958C>G non-coding transcript variant NC_000007.14:g.108182814G>C NC_000007.13:g.107823258G>C NG_029898.2:g.278904C>G - Protein change
- S804C, S788C, S785C, S485C, S769C, S798C, S787C, S689C, S698C, S794C, S803C
- Other names
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- Canonical SPDI
- NC_000007.14:108182813:G:C
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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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Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00010
Exome Aggregation Consortium (ExAC) 0.00019
The Genome Aggregation Database (gnomAD) 0.00038
- 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
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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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| 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. |
|---|---|---|---|---|
| Uncertain significance (1) |
no assertion criteria provided
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Dec 17, 2018 | RCV000785731.2 |
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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Uncertain significance
(Dec 17, 2018)
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no assertion criteria provided
Method: research
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Severe Myopia
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, Polish Academy of Sciences
Accession: SCV000891437.1
First in ClinVar: Jun 22, 2019 Last updated: Jun 22, 2019 |
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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
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 rs201534122 ...
HelpRecord last updated Apr 25, 2022
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.