ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.3500A>G (p.Gln1167Arg)
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.3500A>G (p.Gln1167Arg)
Variation ID: 2604244 Accession: VCV002604244.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108160459 (GRCh38) [ NCBI UCSC ] 7: 107800904 (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 Oct 28, 2023 May 1, 2024 Jun 16, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001037132.4:c.3500A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Gln1167Arg missense NM_001193582.2:c.3221A>G NP_001180511.1:p.Gln1074Arg missense NM_001193583.2:c.3164A>G NP_001180512.1:p.Gln1055Arg missense NM_001193584.2:c.3128A>G NP_001180513.1:p.Gln1043Arg missense NM_001371119.1:c.3452A>G NP_001358048.1:p.Gln1151Arg missense NM_001371122.1:c.3164A>G NP_001358051.1:p.Gln1055Arg missense NM_001371123.1:c.3230A>G NP_001358052.1:p.Gln1077Arg missense NM_001371124.1:c.3443A>G NP_001358053.1:p.Gln1148Arg missense NM_001371125.1:c.2876A>G NP_001358054.1:p.Gln959Arg missense NM_001371126.1:c.3443A>G NP_001358055.1:p.Gln1148Arg missense NM_001371127.1:c.3218A>G NP_001358056.1:p.Gln1073Arg missense NM_001371128.1:c.3221A>G NP_001358057.1:p.Gln1074Arg missense NM_001371129.1:c.3140A>G NP_001358058.1:p.Gln1047Arg missense NM_001371130.1:c.3146A>G NP_001358059.1:p.Gln1049Arg missense NM_001371131.1:c.3500A>G NP_001358060.1:p.Gln1167Arg missense NM_001371132.1:c.3140A>G NP_001358061.1:p.Gln1047Arg missense NM_001371133.1:c.3137A>G NP_001358062.1:p.Gln1046Arg missense NM_001371134.1:c.3134A>G NP_001358063.1:p.Gln1045Arg missense NM_001371135.1:c.3173A>G NP_001358064.1:p.Gln1058Arg missense NM_001371136.1:c.3263A>G NP_001358065.1:p.Gln1088Arg missense NM_001371137.1:c.2228A>G NP_001358066.1:p.Gln743Arg missense NM_001371138.1:c.3338A>G NP_001358067.1:p.Gln1113Arg missense NM_001371139.1:c.3164A>G NP_001358068.1:p.Gln1055Arg missense NM_001371140.1:c.3254A>G NP_001358069.1:p.Gln1085Arg missense NM_001371141.1:c.3137A>G NP_001358070.1:p.Gln1046Arg missense NM_001371142.1:c.2849A>G NP_001358071.1:p.Gln950Arg missense NM_001371143.1:c.3155A>G NP_001358072.1:p.Gln1052Arg missense NM_001371144.1:c.3221A>G NP_001358073.1:p.Gln1074Arg missense NM_001371145.1:c.3290A>G NP_001358074.1:p.Gln1097Arg missense NM_001371146.1:c.3407A>G NP_001358075.1:p.Gln1136Arg missense NM_001371147.1:c.2876A>G NP_001358076.1:p.Gln959Arg missense NM_001371148.1:c.2867A>G NP_001358077.1:p.Gln956Arg missense NM_001371149.1:c.3230A>G NP_001358078.1:p.Gln1077Arg missense NM_001371150.1:c.3155A>G NP_001358079.1:p.Gln1052Arg missense NM_001371151.1:c.3137A>G NP_001358080.1:p.Gln1046Arg missense NM_001371152.1:c.3146A>G NP_001358081.1:p.Gln1049Arg missense NM_001371153.1:c.3185A>G NP_001358082.1:p.Gln1062Arg missense NM_001371154.1:c.2951A>G NP_001358083.1:p.Gln984Arg missense NM_001371155.1:c.3164A>G NP_001358084.1:p.Gln1055Arg missense NM_001371156.1:c.3509A>G NP_001358085.1:p.Gln1170Arg missense NM_001371157.1:c.3137A>G NP_001358086.1:p.Gln1046Arg missense NM_001371158.1:c.3317A>G NP_001358087.1:p.Gln1106Arg missense NM_001371159.1:c.3164A>G NP_001358088.1:p.Gln1055Arg missense NM_001371160.1:c.3167A>G NP_001358089.1:p.Gln1056Arg missense NM_001371161.1:c.3185A>G NP_001358090.1:p.Gln1062Arg missense NM_001371162.1:c.3128A>G NP_001358091.1:p.Gln1043Arg missense NM_001371163.1:c.3164A>G NP_001358092.1:p.Gln1055Arg missense NM_001371164.1:c.3155A>G NP_001358093.1:p.Gln1052Arg missense NM_001371165.1:c.3164A>G NP_001358094.1:p.Gln1055Arg missense NM_001371166.1:c.2951A>G NP_001358095.1:p.Gln984Arg missense NM_001371167.1:c.3164A>G NP_001358096.1:p.Gln1055Arg missense NM_001371168.1:c.3221A>G NP_001358097.1:p.Gln1074Arg missense NM_001371169.1:c.3464A>G NP_001358098.1:p.Gln1155Arg missense NM_001371170.1:c.2867A>G NP_001358099.1:p.Gln956Arg missense NM_001371171.1:c.3137A>G NP_001358100.1:p.Gln1046Arg missense NM_001371172.1:c.3443A>G NP_001358101.1:p.Gln1148Arg missense NM_001371173.1:c.3197A>G NP_001358102.1:p.Gln1066Arg missense NM_001371174.1:c.3155A>G NP_001358103.1:p.Gln1052Arg missense NM_001371175.1:c.2837A>G NP_001358104.1:p.Gln946Arg missense NM_001371176.1:c.3146A>G NP_001358105.1:p.Gln1049Arg missense NM_001371177.1:c.3164A>G NP_001358106.1:p.Gln1055Arg missense NM_001371178.1:c.3137A>G NP_001358107.1:p.Gln1046Arg missense NM_001371179.1:c.2867A>G NP_001358108.1:p.Gln956Arg missense NM_001371180.1:c.2867A>G NP_001358109.1:p.Gln956Arg missense NM_001371181.1:c.3164A>G NP_001358110.1:p.Gln1055Arg missense NM_001371182.1:c.3089A>G NP_001358111.1:p.Gln1030Arg missense NM_005010.5:c.3137A>G NP_005001.3:p.Gln1046Arg missense NR_163867.1:n.3689A>G non-coding transcript variant NR_163868.1:n.3977A>G non-coding transcript variant NR_163869.1:n.3842A>G non-coding transcript variant NR_163870.1:n.3743A>G non-coding transcript variant NR_163871.1:n.3732A>G non-coding transcript variant NC_000007.14:g.108160459T>C NC_000007.13:g.107800904T>C NG_029898.2:g.301259A>G - Protein change
- Q1046R, Q1049R, Q1055R, Q1058R, Q1136R, Q1148R, Q1155R, Q946R, Q1043R, Q1052R, Q1056R, Q1066R, Q1113R, Q1151R, Q1170R, Q950R, Q959R, Q984R, Q1030R, Q1047R, Q1073R, Q1077R, Q1088R, Q1097R, Q743R, Q956R, Q1045R, Q1062R, Q1074R, Q1085R, Q1106R, Q1167R
- Other names
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- Canonical SPDI
- NC_000007.14:108160458:T: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
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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
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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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Jun 16, 2023 | RCV003366700.2 |
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
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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
(Jun 16, 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: SCV004070697.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.3500A>G (p.Q1167R) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to G substitution … (more)
The c.3500A>G (p.Q1167R) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to G substitution at nucleotide position 3500, causing the glutamine (Q) at amino acid position 1167 to be replaced by an arginine (R). 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 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.