ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.274G>A (p.Asp92Asn)
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.274G>A (p.Asp92Asn)
Variation ID: 3202050 Accession: VCV003202050.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 107872923 (GRCh37) [ NCBI UCSC ] 7: 108232479 (GRCh38) [ 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 Sep 20, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001037132.4:c.274G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Asp92Asn missense NM_001193582.2:c.274G>A NP_001180511.1:p.Asp92Asn missense NM_001193583.2:c.274G>A NP_001180512.1:p.Asp92Asn missense NM_001193584.2:c.274G>A NP_001180513.1:p.Asp92Asn missense NM_001371119.1:c.274G>A NP_001358048.1:p.Asp92Asn missense NM_001371122.1:c.274G>A NP_001358051.1:p.Asp92Asn missense NM_001371123.1:c.274G>A NP_001358052.1:p.Asp92Asn missense NM_001371124.1:c.274G>A NP_001358053.1:p.Asp92Asn missense NM_001371125.1:c.-15G>A 5 prime UTR NM_001371126.1:c.274G>A NP_001358055.1:p.Asp92Asn missense NM_001371127.1:c.274G>A NP_001358056.1:p.Asp92Asn missense NM_001371128.1:c.274G>A NP_001358057.1:p.Asp92Asn missense NM_001371129.1:c.274G>A NP_001358058.1:p.Asp92Asn missense NM_001371130.1:c.256G>A NP_001358059.1:p.Asp86Asn missense NM_001371131.1:c.274G>A NP_001358060.1:p.Asp92Asn missense NM_001371132.1:c.274G>A NP_001358061.1:p.Asp92Asn missense NM_001371133.1:c.256G>A NP_001358062.1:p.Asp86Asn missense NM_001371134.1:c.256G>A NP_001358063.1:p.Asp86Asn missense NM_001371135.1:c.274G>A NP_001358064.1:p.Asp92Asn missense NM_001371136.1:c.256G>A NP_001358065.1:p.Asp86Asn missense NM_001371137.1:c.-485G>A 5 prime UTR NM_001371138.1:c.274G>A NP_001358067.1:p.Asp92Asn missense NM_001371139.1:c.274G>A NP_001358068.1:p.Asp92Asn missense NM_001371140.1:c.274G>A NP_001358069.1:p.Asp92Asn missense NM_001371141.1:c.274G>A NP_001358070.1:p.Asp92Asn missense NM_001371142.1:c.-15G>A 5 prime UTR NM_001371143.1:c.-15G>A 5 prime UTR NM_001371144.1:c.274G>A NP_001358073.1:p.Asp92Asn missense NM_001371145.1:c.274G>A NP_001358074.1:p.Asp92Asn missense NM_001371146.1:c.274G>A NP_001358075.1:p.Asp92Asn missense NM_001371147.1:c.-15G>A 5 prime UTR NM_001371148.1:c.-15G>A 5 prime UTR NM_001371149.1:c.274G>A NP_001358078.1:p.Asp92Asn missense NM_001371150.1:c.274G>A NP_001358079.1:p.Asp92Asn missense NM_001371151.1:c.256G>A NP_001358080.1:p.Asp86Asn missense NM_001371152.1:c.256G>A NP_001358081.1:p.Asp86Asn missense NM_001371153.1:c.274G>A NP_001358082.1:p.Asp92Asn missense NM_001371154.1:c.274G>A NP_001358083.1:p.Asp92Asn missense NM_001371155.1:c.274G>A NP_001358084.1:p.Asp92Asn missense NM_001371156.1:c.274G>A NP_001358085.1:p.Asp92Asn missense NM_001371157.1:c.256G>A NP_001358086.1:p.Asp86Asn missense NM_001371158.1:c.274G>A NP_001358087.1:p.Asp92Asn missense NM_001371159.1:c.274G>A NP_001358088.1:p.Asp92Asn missense NM_001371160.1:c.256G>A NP_001358089.1:p.Asp86Asn missense NM_001371161.1:c.274G>A NP_001358090.1:p.Asp92Asn missense NM_001371162.1:c.274G>A NP_001358091.1:p.Asp92Asn missense NM_001371163.1:c.274G>A NP_001358092.1:p.Asp92Asn missense NM_001371164.1:c.-15G>A 5 prime UTR NM_001371165.1:c.274G>A NP_001358094.1:p.Asp92Asn missense NM_001371166.1:c.274G>A NP_001358095.1:p.Asp92Asn missense NM_001371167.1:c.274G>A NP_001358096.1:p.Asp92Asn missense NM_001371168.1:c.274G>A NP_001358097.1:p.Asp92Asn missense NM_001371169.1:c.274G>A NP_001358098.1:p.Asp92Asn missense NM_001371170.1:c.-15G>A 5 prime UTR NM_001371171.1:c.256G>A NP_001358100.1:p.Asp86Asn missense NM_001371172.1:c.274G>A NP_001358101.1:p.Asp92Asn missense NM_001371173.1:c.274G>A NP_001358102.1:p.Asp92Asn missense NM_001371174.1:c.274G>A NP_001358103.1:p.Asp92Asn missense NM_001371175.1:c.256G>A NP_001358104.1:p.Asp86Asn missense NM_001371176.1:c.256G>A NP_001358105.1:p.Asp86Asn missense NM_001371177.1:c.274G>A NP_001358106.1:p.Asp92Asn missense NM_001371178.1:c.256G>A NP_001358107.1:p.Asp86Asn missense NM_001371179.1:c.-15G>A 5 prime UTR NM_001371180.1:c.-15G>A 5 prime UTR NM_001371181.1:c.274G>A NP_001358110.1:p.Asp92Asn missense NM_001371182.1:c.256G>A NP_001358111.1:p.Asp86Asn missense NM_005010.5:c.256G>A NP_005001.3:p.Asp86Asn missense NR_163867.1:n.799G>A non-coding transcript variant NR_163868.1:n.799G>A non-coding transcript variant NR_163869.1:n.799G>A non-coding transcript variant NR_163870.1:n.781G>A non-coding transcript variant NR_163871.1:n.851G>A non-coding transcript variant NC_000007.14:g.108232479C>T NC_000007.13:g.107872923C>T NG_029898.2:g.229239G>A - Protein change
- D86N, D92N
- Other names
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- Canonical SPDI
- NC_000007.14:108232478:C: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
Help
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
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
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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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Sep 20, 2023 | RCV004493462.1 |
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
(Sep 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004991114.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.274G>A (p.D92N) alteration is located in exon 4 (coding exon 4) of the NRCAM gene. This alteration results from a G to A substitution … (more)
The c.274G>A (p.D92N) alteration is located in exon 4 (coding exon 4) of the NRCAM gene. This alteration results from a G to A substitution at nucleotide position 274, causing the aspartic acid (D) at amino acid position 92 to be replaced by an asparagine (N). 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.