The c.3716G>A (p.R1239Q) alteration is located in exon 30 (coding exon 30) of the NRCAM gene. This alteration results from a G to A substitution at nucleotide position 3716, causing the arginine (R) at amino acid position 1239 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.3716G>A (p.Arg1239Gln)
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_001037132.4(NRCAM):c.3716G>A (p.Arg1239Gln)
Variation ID: 2204943 Accession: VCV002204943.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108150109 (GRCh38) [ NCBI UCSC ] 7: 107790554 (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 Feb 8, 2023 May 1, 2024 Jul 27, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.3716G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Arg1239Gln missense NM_001193582.2:c.3437G>A NP_001180511.1:p.Arg1146Gln missense NM_001193583.2:c.3380G>A NP_001180512.1:p.Arg1127Gln missense NM_001193584.2:c.3344G>A NP_001180513.1:p.Arg1115Gln missense NM_001371119.1:c.3668G>A NP_001358048.1:p.Arg1223Gln missense NM_001371122.1:c.3380G>A NP_001358051.1:p.Arg1127Gln missense NM_001371123.1:c.3446G>A NP_001358052.1:p.Arg1149Gln missense NM_001371124.1:c.3659G>A NP_001358053.1:p.Arg1220Gln missense NM_001371125.1:c.3092G>A NP_001358054.1:p.Arg1031Gln missense NM_001371126.1:c.3659G>A NP_001358055.1:p.Arg1220Gln missense NM_001371127.1:c.3434G>A NP_001358056.1:p.Arg1145Gln missense NM_001371128.1:c.3437G>A NP_001358057.1:p.Arg1146Gln missense NM_001371129.1:c.3356G>A NP_001358058.1:p.Arg1119Gln missense NM_001371130.1:c.3362G>A NP_001358059.1:p.Arg1121Gln missense NM_001371131.1:c.3716G>A NP_001358060.1:p.Arg1239Gln missense NM_001371132.1:c.3356G>A NP_001358061.1:p.Arg1119Gln missense NM_001371133.1:c.3353G>A NP_001358062.1:p.Arg1118Gln missense NM_001371134.1:c.3350G>A NP_001358063.1:p.Arg1117Gln missense NM_001371135.1:c.3389G>A NP_001358064.1:p.Arg1130Gln missense NM_001371136.1:c.3479G>A NP_001358065.1:p.Arg1160Gln missense NM_001371137.1:c.2444G>A NP_001358066.1:p.Arg815Gln missense NM_001371138.1:c.3554G>A NP_001358067.1:p.Arg1185Gln missense NM_001371139.1:c.3380G>A NP_001358068.1:p.Arg1127Gln missense NM_001371140.1:c.3470G>A NP_001358069.1:p.Arg1157Gln missense NM_001371141.1:c.3353G>A NP_001358070.1:p.Arg1118Gln missense NM_001371142.1:c.3065G>A NP_001358071.1:p.Arg1022Gln missense NM_001371143.1:c.3371G>A NP_001358072.1:p.Arg1124Gln missense NM_001371144.1:c.3437G>A NP_001358073.1:p.Arg1146Gln missense NM_001371145.1:c.3506G>A NP_001358074.1:p.Arg1169Gln missense NM_001371146.1:c.3623G>A NP_001358075.1:p.Arg1208Gln missense NM_001371147.1:c.3092G>A NP_001358076.1:p.Arg1031Gln missense NM_001371148.1:c.3083G>A NP_001358077.1:p.Arg1028Gln missense NM_001371149.1:c.3446G>A NP_001358078.1:p.Arg1149Gln missense NM_001371150.1:c.*64G>A 3 prime UTR NM_001371151.1:c.3353G>A NP_001358080.1:p.Arg1118Gln missense NM_001371152.1:c.3362G>A NP_001358081.1:p.Arg1121Gln missense NM_001371153.1:c.3401G>A NP_001358082.1:p.Arg1134Gln missense NM_001371154.1:c.3167G>A NP_001358083.1:p.Arg1056Gln missense NM_001371155.1:c.3380G>A NP_001358084.1:p.Arg1127Gln missense NM_001371156.1:c.3725G>A NP_001358085.1:p.Arg1242Gln missense NM_001371157.1:c.*64G>A 3 prime UTR NM_001371158.1:c.3533G>A NP_001358087.1:p.Arg1178Gln missense NM_001371159.1:c.3380G>A NP_001358088.1:p.Arg1127Gln missense NM_001371160.1:c.3395G>A NP_001358089.1:p.Arg1132Gln missense NM_001371161.1:c.3401G>A NP_001358090.1:p.Arg1134Gln missense NM_001371162.1:c.3344G>A NP_001358091.1:p.Arg1115Gln missense NM_001371163.1:c.3380G>A NP_001358092.1:p.Arg1127Gln missense NM_001371164.1:c.3371G>A NP_001358093.1:p.Arg1124Gln missense NM_001371165.1:c.3380G>A NP_001358094.1:p.Arg1127Gln missense NM_001371166.1:c.3167G>A NP_001358095.1:p.Arg1056Gln missense NM_001371167.1:c.3380G>A NP_001358096.1:p.Arg1127Gln missense NM_001371168.1:c.3437G>A NP_001358097.1:p.Arg1146Gln missense NM_001371169.1:c.3680G>A NP_001358098.1:p.Arg1227Gln missense NM_001371170.1:c.3095G>A NP_001358099.1:p.Arg1032Gln missense NM_001371171.1:c.3353G>A NP_001358100.1:p.Arg1118Gln missense NM_001371172.1:c.3659G>A NP_001358101.1:p.Arg1220Gln missense NM_001371173.1:c.3413G>A NP_001358102.1:p.Arg1138Gln missense NM_001371174.1:c.3371G>A NP_001358103.1:p.Arg1124Gln missense NM_001371175.1:c.3053G>A NP_001358104.1:p.Arg1018Gln missense NM_001371176.1:c.3362G>A NP_001358105.1:p.Arg1121Gln missense NM_001371177.1:c.3380G>A NP_001358106.1:p.Arg1127Gln missense NM_001371178.1:c.3353G>A NP_001358107.1:p.Arg1118Gln missense NM_001371179.1:c.3083G>A NP_001358108.1:p.Arg1028Gln missense NM_001371180.1:c.3083G>A NP_001358109.1:p.Arg1028Gln missense NM_001371181.1:c.3380G>A NP_001358110.1:p.Arg1127Gln missense NM_001371182.1:c.3305G>A NP_001358111.1:p.Arg1102Gln missense NM_005010.5:c.3353G>A NP_005001.3:p.Arg1118Gln missense NR_163867.1:n.3967G>A non-coding transcript variant NR_163868.1:n.4255G>A non-coding transcript variant NR_163869.1:n.4120G>A non-coding transcript variant NR_163870.1:n.3959G>A non-coding transcript variant NR_163871.1:n.4010G>A non-coding transcript variant NC_000007.14:g.108150109C>T NC_000007.13:g.107790554C>T NG_029898.2:g.311609G>A - Protein change
- R1028Q, R1102Q, R1115Q, R1117Q, R1124Q, R1138Q, R1157Q, R1220Q, R1227Q, R1239Q, R1018Q, R1022Q, R1056Q, R1127Q, R1146Q, R1178Q, R1185Q, R1223Q, R1121Q, R1132Q, R1160Q, R1242Q, R815Q, R1031Q, R1032Q, R1118Q, R1119Q, R1130Q, R1134Q, R1145Q, R1149Q, R1169Q, R1208Q
- Other names
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- Canonical SPDI
- NC_000007.14:108150108: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
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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| 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) |
criteria provided, single submitter
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Jul 27, 2022 | RCV002668329.2 |
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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Uncertain significance
(Jul 27, 2022)
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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: SCV003535138.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.3716G>A (p.R1239Q) alteration is located in exon 30 (coding exon 30) of the NRCAM gene. This alteration results from a G to A substitution … (more)
The c.3716G>A (p.R1239Q) alteration is located in exon 30 (coding exon 30) of the NRCAM gene. This alteration results from a G to A substitution at nucleotide position 3716, causing the arginine (R) at amino acid position 1239 to be replaced by a glutamine (Q). 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.3716G>A (p.R1239Q) alteration is located in exon 30 (coding exon 30) of the NRCAM gene. This alteration results from a G to A substitution at nucleotide position 3716, causing the arginine (R) at amino acid position 1239 to be replaced by a glutamine (Q). 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 01, 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.