The c.2747C>T (p.P916L) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a C to T substitution at nucleotide position 2747, causing the proline (P) at amino acid position 916 to be replaced by a leucine (L). 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.2747C>T (p.Pro916Leu)
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.2747C>T (p.Pro916Leu)
Variation ID: 3202049 Accession: VCV003202049.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108180327 (GRCh38) [ NCBI UCSC ] 7: 107820771 (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 May 1, 2024 May 1, 2024 Mar 29, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.2747C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Pro916Leu missense NM_001193582.2:c.2747C>T NP_001180511.1:p.Pro916Leu missense NM_001193583.2:c.2690C>T NP_001180512.1:p.Pro897Leu missense NM_001193584.2:c.2690C>T NP_001180513.1:p.Pro897Leu missense NM_001371119.1:c.2690C>T NP_001358048.1:p.Pro897Leu missense NM_001371122.1:c.2690C>T NP_001358051.1:p.Pro897Leu missense NM_001371123.1:c.2747C>T NP_001358052.1:p.Pro916Leu missense NM_001371124.1:c.2690C>T NP_001358053.1:p.Pro897Leu missense NM_001371125.1:c.2402C>T NP_001358054.1:p.Pro801Leu missense NM_001371126.1:c.2690C>T NP_001358055.1:p.Pro897Leu missense NM_001371127.1:c.2744C>T NP_001358056.1:p.Pro915Leu missense NM_001371128.1:c.2747C>T NP_001358057.1:p.Pro916Leu missense NM_001371129.1:c.2690C>T NP_001358058.1:p.Pro897Leu missense NM_001371130.1:c.2699C>T NP_001358059.1:p.Pro900Leu missense NM_001371131.1:c.2747C>T NP_001358060.1:p.Pro916Leu missense NM_001371132.1:c.2690C>T NP_001358061.1:p.Pro897Leu missense NM_001371133.1:c.2699C>T NP_001358062.1:p.Pro900Leu missense NM_001371134.1:c.2696C>T NP_001358063.1:p.Pro899Leu missense NM_001371135.1:c.2690C>T NP_001358064.1:p.Pro897Leu missense NM_001371136.1:c.2699C>T NP_001358065.1:p.Pro900Leu missense NM_001371137.1:c.1790C>T NP_001358066.1:p.Pro597Leu missense NM_001371138.1:c.2747C>T NP_001358067.1:p.Pro916Leu missense NM_001371139.1:c.2690C>T NP_001358068.1:p.Pro897Leu missense NM_001371140.1:c.2690C>T NP_001358069.1:p.Pro897Leu missense NM_001371141.1:c.2690C>T NP_001358070.1:p.Pro897Leu missense NM_001371142.1:c.2402C>T NP_001358071.1:p.Pro801Leu missense NM_001371143.1:c.2402C>T NP_001358072.1:p.Pro801Leu missense NM_001371144.1:c.2747C>T NP_001358073.1:p.Pro916Leu missense NM_001371145.1:c.2690C>T NP_001358074.1:p.Pro897Leu missense NM_001371146.1:c.2690C>T NP_001358075.1:p.Pro897Leu missense NM_001371147.1:c.2402C>T NP_001358076.1:p.Pro801Leu missense NM_001371148.1:c.2429C>T NP_001358077.1:p.Pro810Leu missense NM_001371149.1:c.2747C>T NP_001358078.1:p.Pro916Leu missense NM_001371150.1:c.2717C>T NP_001358079.1:p.Pro906Leu missense NM_001371151.1:c.2699C>T NP_001358080.1:p.Pro900Leu missense NM_001371152.1:c.2699C>T NP_001358081.1:p.Pro900Leu missense NM_001371153.1:c.2747C>T NP_001358082.1:p.Pro916Leu missense NM_001371154.1:c.2690C>T NP_001358083.1:p.Pro897Leu missense NM_001371155.1:c.2690C>T NP_001358084.1:p.Pro897Leu missense NM_001371156.1:c.2747C>T NP_001358085.1:p.Pro916Leu missense NM_001371157.1:c.2699C>T NP_001358086.1:p.Pro900Leu missense NM_001371158.1:c.2690C>T NP_001358087.1:p.Pro897Leu missense NM_001371159.1:c.2717C>T NP_001358088.1:p.Pro906Leu missense NM_001371160.1:c.2729C>T NP_001358089.1:p.Pro910Leu missense NM_001371161.1:c.2747C>T NP_001358090.1:p.Pro916Leu missense NM_001371162.1:c.2690C>T NP_001358091.1:p.Pro897Leu missense NM_001371163.1:c.2690C>T NP_001358092.1:p.Pro897Leu missense NM_001371164.1:c.2402C>T NP_001358093.1:p.Pro801Leu missense NM_001371165.1:c.2690C>T NP_001358094.1:p.Pro897Leu missense NM_001371166.1:c.2690C>T NP_001358095.1:p.Pro897Leu missense NM_001371167.1:c.2690C>T NP_001358096.1:p.Pro897Leu missense NM_001371168.1:c.2747C>T NP_001358097.1:p.Pro916Leu missense NM_001371169.1:c.2747C>T NP_001358098.1:p.Pro916Leu missense NM_001371170.1:c.2429C>T NP_001358099.1:p.Pro810Leu missense NM_001371171.1:c.2699C>T NP_001358100.1:p.Pro900Leu missense NM_001371172.1:c.2690C>T NP_001358101.1:p.Pro897Leu missense NM_001371173.1:c.2747C>T NP_001358102.1:p.Pro916Leu missense NM_001371174.1:c.2717C>T NP_001358103.1:p.Pro906Leu missense NM_001371175.1:c.2699C>T NP_001358104.1:p.Pro900Leu missense NM_001371176.1:c.2699C>T NP_001358105.1:p.Pro900Leu missense NM_001371177.1:c.2690C>T NP_001358106.1:p.Pro897Leu missense NM_001371178.1:c.2699C>T NP_001358107.1:p.Pro900Leu missense NM_001371179.1:c.2429C>T NP_001358108.1:p.Pro810Leu missense NM_001371180.1:c.2429C>T NP_001358109.1:p.Pro810Leu missense NM_001371181.1:c.2690C>T NP_001358110.1:p.Pro897Leu missense NM_001371182.1:c.2642C>T NP_001358111.1:p.Pro881Leu missense NM_005010.5:c.2699C>T NP_005001.3:p.Pro900Leu missense NR_163867.1:n.3215C>T non-coding transcript variant NR_163868.1:n.3215C>T non-coding transcript variant NR_163869.1:n.3215C>T non-coding transcript variant NR_163870.1:n.3296C>T non-coding transcript variant NR_163871.1:n.3294C>T non-coding transcript variant NC_000007.14:g.108180327G>A NC_000007.13:g.107820771G>A NG_029898.2:g.281391C>T - Protein change
- P597L, P899L, P906L, P915L, P801L, P810L, P881L, P900L, P916L, P897L, P910L
- Other names
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- Canonical SPDI
- NC_000007.14:108180326: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
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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Mar 29, 2022 | RCV004493461.1 |
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
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
(Mar 29, 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: SCV004991113.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2747C>T (p.P916L) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a C to T substitution … (more)
The c.2747C>T (p.P916L) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a C to T substitution at nucleotide position 2747, causing the proline (P) at amino acid position 916 to be replaced by a leucine (L). 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.2747C>T (p.P916L) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a C to T substitution at nucleotide position 2747, causing the proline (P) at amino acid position 916 to be replaced by a leucine (L). 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 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.