The c.3490A>T (p.I1164F) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to T substitution at nucleotide position 3490, causing the isoleucine (I) at amino acid position 1164 to be replaced by a phenylalanine (F). 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.3490A>T (p.Ile1164Phe)
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)
Help
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
-
NM_001037132.4(NRCAM):c.3490A>T (p.Ile1164Phe)
Variation ID: 2549518 Accession: VCV002549518.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 7q31.1 7: 108160469 (GRCh38) [ NCBI UCSC ] 7: 107800914 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jul 8, 2023 May 1, 2024 May 22, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.3490A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Ile1164Phe missense NM_001193582.2:c.3211A>T NP_001180511.1:p.Ile1071Phe missense NM_001193583.2:c.3154A>T NP_001180512.1:p.Ile1052Phe missense NM_001193584.2:c.3118A>T NP_001180513.1:p.Ile1040Phe missense NM_001371119.1:c.3442A>T NP_001358048.1:p.Ile1148Phe missense NM_001371122.1:c.3154A>T NP_001358051.1:p.Ile1052Phe missense NM_001371123.1:c.3220A>T NP_001358052.1:p.Ile1074Phe missense NM_001371124.1:c.3433A>T NP_001358053.1:p.Ile1145Phe missense NM_001371125.1:c.2866A>T NP_001358054.1:p.Ile956Phe missense NM_001371126.1:c.3433A>T NP_001358055.1:p.Ile1145Phe missense NM_001371127.1:c.3208A>T NP_001358056.1:p.Ile1070Phe missense NM_001371128.1:c.3211A>T NP_001358057.1:p.Ile1071Phe missense NM_001371129.1:c.3130A>T NP_001358058.1:p.Ile1044Phe missense NM_001371130.1:c.3136A>T NP_001358059.1:p.Ile1046Phe missense NM_001371131.1:c.3490A>T NP_001358060.1:p.Ile1164Phe missense NM_001371132.1:c.3130A>T NP_001358061.1:p.Ile1044Phe missense NM_001371133.1:c.3127A>T NP_001358062.1:p.Ile1043Phe missense NM_001371134.1:c.3124A>T NP_001358063.1:p.Ile1042Phe missense NM_001371135.1:c.3163A>T NP_001358064.1:p.Ile1055Phe missense NM_001371136.1:c.3253A>T NP_001358065.1:p.Ile1085Phe missense NM_001371137.1:c.2218A>T NP_001358066.1:p.Ile740Phe missense NM_001371138.1:c.3328A>T NP_001358067.1:p.Ile1110Phe missense NM_001371139.1:c.3154A>T NP_001358068.1:p.Ile1052Phe missense NM_001371140.1:c.3244A>T NP_001358069.1:p.Ile1082Phe missense NM_001371141.1:c.3127A>T NP_001358070.1:p.Ile1043Phe missense NM_001371142.1:c.2839A>T NP_001358071.1:p.Ile947Phe missense NM_001371143.1:c.3145A>T NP_001358072.1:p.Ile1049Phe missense NM_001371144.1:c.3211A>T NP_001358073.1:p.Ile1071Phe missense NM_001371145.1:c.3280A>T NP_001358074.1:p.Ile1094Phe missense NM_001371146.1:c.3397A>T NP_001358075.1:p.Ile1133Phe missense NM_001371147.1:c.2866A>T NP_001358076.1:p.Ile956Phe missense NM_001371148.1:c.2857A>T NP_001358077.1:p.Ile953Phe missense NM_001371149.1:c.3220A>T NP_001358078.1:p.Ile1074Phe missense NM_001371150.1:c.3145A>T NP_001358079.1:p.Ile1049Phe missense NM_001371151.1:c.3127A>T NP_001358080.1:p.Ile1043Phe missense NM_001371152.1:c.3136A>T NP_001358081.1:p.Ile1046Phe missense NM_001371153.1:c.3175A>T NP_001358082.1:p.Ile1059Phe missense NM_001371154.1:c.2941A>T NP_001358083.1:p.Ile981Phe missense NM_001371155.1:c.3154A>T NP_001358084.1:p.Ile1052Phe missense NM_001371156.1:c.3499A>T NP_001358085.1:p.Ile1167Phe missense NM_001371157.1:c.3127A>T NP_001358086.1:p.Ile1043Phe missense NM_001371158.1:c.3307A>T NP_001358087.1:p.Ile1103Phe missense NM_001371159.1:c.3154A>T NP_001358088.1:p.Ile1052Phe missense NM_001371160.1:c.3157A>T NP_001358089.1:p.Ile1053Phe missense NM_001371161.1:c.3175A>T NP_001358090.1:p.Ile1059Phe missense NM_001371162.1:c.3118A>T NP_001358091.1:p.Ile1040Phe missense NM_001371163.1:c.3154A>T NP_001358092.1:p.Ile1052Phe missense NM_001371164.1:c.3145A>T NP_001358093.1:p.Ile1049Phe missense NM_001371165.1:c.3154A>T NP_001358094.1:p.Ile1052Phe missense NM_001371166.1:c.2941A>T NP_001358095.1:p.Ile981Phe missense NM_001371167.1:c.3154A>T NP_001358096.1:p.Ile1052Phe missense NM_001371168.1:c.3211A>T NP_001358097.1:p.Ile1071Phe missense NM_001371169.1:c.3454A>T NP_001358098.1:p.Ile1152Phe missense NM_001371170.1:c.2857A>T NP_001358099.1:p.Ile953Phe missense NM_001371171.1:c.3127A>T NP_001358100.1:p.Ile1043Phe missense NM_001371172.1:c.3433A>T NP_001358101.1:p.Ile1145Phe missense NM_001371173.1:c.3187A>T NP_001358102.1:p.Ile1063Phe missense NM_001371174.1:c.3145A>T NP_001358103.1:p.Ile1049Phe missense NM_001371175.1:c.2827A>T NP_001358104.1:p.Ile943Phe missense NM_001371176.1:c.3136A>T NP_001358105.1:p.Ile1046Phe missense NM_001371177.1:c.3154A>T NP_001358106.1:p.Ile1052Phe missense NM_001371178.1:c.3127A>T NP_001358107.1:p.Ile1043Phe missense NM_001371179.1:c.2857A>T NP_001358108.1:p.Ile953Phe missense NM_001371180.1:c.2857A>T NP_001358109.1:p.Ile953Phe missense NM_001371181.1:c.3154A>T NP_001358110.1:p.Ile1052Phe missense NM_001371182.1:c.3079A>T NP_001358111.1:p.Ile1027Phe missense NM_005010.5:c.3127A>T NP_005001.3:p.Ile1043Phe missense NR_163867.1:n.3679A>T non-coding transcript variant NR_163868.1:n.3967A>T non-coding transcript variant NR_163869.1:n.3832A>T non-coding transcript variant NR_163870.1:n.3733A>T non-coding transcript variant NR_163871.1:n.3722A>T non-coding transcript variant NC_000007.14:g.108160469T>A NC_000007.13:g.107800914T>A NG_029898.2:g.301249A>T - Protein change
- I1046F, I1053F, I1082F, I1145F, I943F, I947F, I1027F, I1042F, I1043F, I1044F, I1049F, I1052F, I1059F, I1110F, I1133F, I1152F, I1164F, I1063F, I1070F, I1074F, I1094F, I1103F, I1148F, I953F, I1040F, I1055F, I1071F, I1085F, I1167F, I740F, I956F, I981F
- Other names
- -
- Canonical SPDI
- NC_000007.14:108160468:T:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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. |
|||
| 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
|
May 22, 2023 | RCV003268493.2 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(May 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003983431.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.3490A>T (p.I1164F) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to T substitution … (more)
The c.3490A>T (p.I1164F) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to T substitution at nucleotide position 3490, causing the isoleucine (I) at amino acid position 1164 to be replaced by a phenylalanine (F). 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.3490A>T (p.I1164F) alteration is located in exon 28 (coding exon 28) of the NRCAM gene. This alteration results from a A to T substitution at nucleotide position 3490, causing the isoleucine (I) at amino acid position 1164 to be replaced by a phenylalanine (F). 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.