ClinVar Genomic variation as it relates to human health
NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)
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.2785C>T (p.Arg929Ter)
Variation ID: 1329980 Accession: VCV001329980.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108180289 (GRCh38) [ NCBI UCSC ] 7: 107820733 (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 10, 2022 May 28, 2022 Apr 25, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.2785C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Arg929Ter nonsense NM_001193582.2:c.2785C>T NP_001180511.1:p.Arg929Ter nonsense NM_001193583.2:c.2728C>T NP_001180512.1:p.Arg910Ter nonsense NM_001193584.2:c.2728C>T NP_001180513.1:p.Arg910Ter nonsense NM_001371119.1:c.2728C>T NP_001358048.1:p.Arg910Ter nonsense NM_001371122.1:c.2728C>T NP_001358051.1:p.Arg910Ter nonsense NM_001371123.1:c.2785C>T NP_001358052.1:p.Arg929Ter nonsense NM_001371124.1:c.2728C>T NP_001358053.1:p.Arg910Ter nonsense NM_001371125.1:c.2440C>T NP_001358054.1:p.Arg814Ter nonsense NM_001371126.1:c.2728C>T NP_001358055.1:p.Arg910Ter nonsense NM_001371127.1:c.2782C>T NP_001358056.1:p.Arg928Ter nonsense NM_001371128.1:c.2785C>T NP_001358057.1:p.Arg929Ter nonsense NM_001371129.1:c.2728C>T NP_001358058.1:p.Arg910Ter nonsense NM_001371130.1:c.2737C>T NP_001358059.1:p.Arg913Ter nonsense NM_001371131.1:c.2785C>T NP_001358060.1:p.Arg929Ter nonsense NM_001371132.1:c.2728C>T NP_001358061.1:p.Arg910Ter nonsense NM_001371133.1:c.2737C>T NP_001358062.1:p.Arg913Ter nonsense NM_001371134.1:c.2734C>T NP_001358063.1:p.Arg912Ter nonsense NM_001371135.1:c.2728C>T NP_001358064.1:p.Arg910Ter nonsense NM_001371136.1:c.2737C>T NP_001358065.1:p.Arg913Ter nonsense NM_001371137.1:c.1828C>T NP_001358066.1:p.Arg610Ter nonsense NM_001371138.1:c.2785C>T NP_001358067.1:p.Arg929Ter nonsense NM_001371139.1:c.2728C>T NP_001358068.1:p.Arg910Ter nonsense NM_001371140.1:c.2728C>T NP_001358069.1:p.Arg910Ter nonsense NM_001371141.1:c.2728C>T NP_001358070.1:p.Arg910Ter nonsense NM_001371142.1:c.2440C>T NP_001358071.1:p.Arg814Ter nonsense NM_001371143.1:c.2440C>T NP_001358072.1:p.Arg814Ter nonsense NM_001371144.1:c.2785C>T NP_001358073.1:p.Arg929Ter nonsense NM_001371145.1:c.2728C>T NP_001358074.1:p.Arg910Ter nonsense NM_001371146.1:c.2728C>T NP_001358075.1:p.Arg910Ter nonsense NM_001371147.1:c.2440C>T NP_001358076.1:p.Arg814Ter nonsense NM_001371148.1:c.2467C>T NP_001358077.1:p.Arg823Ter nonsense NM_001371149.1:c.2785C>T NP_001358078.1:p.Arg929Ter nonsense NM_001371150.1:c.2755C>T NP_001358079.1:p.Arg919Ter nonsense NM_001371151.1:c.2737C>T NP_001358080.1:p.Arg913Ter nonsense NM_001371152.1:c.2737C>T NP_001358081.1:p.Arg913Ter nonsense NM_001371153.1:c.2785C>T NP_001358082.1:p.Arg929Ter nonsense NM_001371154.1:c.2728C>T NP_001358083.1:p.Arg910Ter nonsense NM_001371155.1:c.2728C>T NP_001358084.1:p.Arg910Ter nonsense NM_001371156.1:c.2785C>T NP_001358085.1:p.Arg929Ter nonsense NM_001371157.1:c.2737C>T NP_001358086.1:p.Arg913Ter nonsense NM_001371158.1:c.2728C>T NP_001358087.1:p.Arg910Ter nonsense NM_001371159.1:c.2755C>T NP_001358088.1:p.Arg919Ter nonsense NM_001371160.1:c.2767C>T NP_001358089.1:p.Arg923Ter nonsense NM_001371161.1:c.2785C>T NP_001358090.1:p.Arg929Ter nonsense NM_001371162.1:c.2728C>T NP_001358091.1:p.Arg910Ter nonsense NM_001371163.1:c.2728C>T NP_001358092.1:p.Arg910Ter nonsense NM_001371164.1:c.2440C>T NP_001358093.1:p.Arg814Ter nonsense NM_001371165.1:c.2728C>T NP_001358094.1:p.Arg910Ter nonsense NM_001371166.1:c.2728C>T NP_001358095.1:p.Arg910Ter nonsense NM_001371167.1:c.2728C>T NP_001358096.1:p.Arg910Ter nonsense NM_001371168.1:c.2785C>T NP_001358097.1:p.Arg929Ter nonsense NM_001371169.1:c.2785C>T NP_001358098.1:p.Arg929Ter nonsense NM_001371170.1:c.2467C>T NP_001358099.1:p.Arg823Ter nonsense NM_001371171.1:c.2737C>T NP_001358100.1:p.Arg913Ter nonsense NM_001371172.1:c.2728C>T NP_001358101.1:p.Arg910Ter nonsense NM_001371173.1:c.2785C>T NP_001358102.1:p.Arg929Ter nonsense NM_001371174.1:c.2755C>T NP_001358103.1:p.Arg919Ter nonsense NM_001371175.1:c.2737C>T NP_001358104.1:p.Arg913Ter nonsense NM_001371176.1:c.2737C>T NP_001358105.1:p.Arg913Ter nonsense NM_001371177.1:c.2728C>T NP_001358106.1:p.Arg910Ter nonsense NM_001371178.1:c.2737C>T NP_001358107.1:p.Arg913Ter nonsense NM_001371179.1:c.2467C>T NP_001358108.1:p.Arg823Ter nonsense NM_001371180.1:c.2467C>T NP_001358109.1:p.Arg823Ter nonsense NM_001371181.1:c.2728C>T NP_001358110.1:p.Arg910Ter nonsense NM_001371182.1:c.2680C>T NP_001358111.1:p.Arg894Ter nonsense NM_005010.5:c.2737C>T NP_005001.3:p.Arg913Ter nonsense NR_163867.1:n.3253C>T non-coding transcript variant NR_163868.1:n.3253C>T non-coding transcript variant NR_163869.1:n.3253C>T non-coding transcript variant NR_163870.1:n.3334C>T non-coding transcript variant NR_163871.1:n.3332C>T non-coding transcript variant NC_000007.14:g.108180289G>A NC_000007.13:g.107820733G>A NG_029898.2:g.281429C>T - Protein change
- R610*, R814*, R823*, R894*, R910*, R912*, R913*, R919*, R923*, R928*, R929*
- Other names
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- Canonical SPDI
- NC_000007.14:108180288:G:A
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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
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
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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
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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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NRCAM-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Dec 28, 2021 | RCV001824181.1 |
| Pathogenic (1) |
no assertion criteria provided
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Apr 25, 2022 | RCV002246516.1 |
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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Pathogenic
(Dec 28, 2021)
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no assertion criteria provided
Method: research
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NRCAM-related disorder
Affected status: yes
Allele origin:
inherited
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Genetics Institute, Tel Aviv Sourasky Medical Center
Accession: SCV002044485.1
First in ClinVar: Feb 10, 2022 Last updated: Feb 10, 2022 |
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Pathogenic
(Apr 25, 2022)
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no assertion criteria provided
Method: literature only
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NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV002520408.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
Comment on evidence:
In a 5-year-old boy (P1), born of consanguineous Arab-Muslim parents, with neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS; 619833), Kurolap et al. (2022) identified … (more)
In a 5-year-old boy (P1), born of consanguineous Arab-Muslim parents, with neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS; 619833), Kurolap et al. (2022) identified a homozygous c.2785C-T transition (c.2785C-T, NM_001037132.2) in exon 25 of the NRCAM gene, resulting in an arg929-to-ter (R929X) substitution in the fibronectin type III domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed. The patient had severe global developmental delay from birth, poor overall growth with microcephaly and dysmorphic facial features, feeding problems, hypotonia, demyelinating polyneuropathy, hydrocephalus, optic and auditory defects, and skeletal anomalies. (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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. | Kurolap A | American journal of human genetics | 2022 | PMID: 35108495 |
Text-mined citations for rs2153275538 ...
HelpRecord last updated May 12, 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.