The c.2705A>C (p.K902T) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to C substitution at nucleotide position 2705, causing the lysine (K) at amino acid position 902 to be replaced by a threonine (T). 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.2705A>C (p.Lys902Thr)
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.
(2)
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
2
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.2705A>C (p.Lys902Thr)
Variation ID: 1329988 Accession: VCV001329988.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.1 7: 108180369 (GRCh38) [ NCBI UCSC ] 7: 107820813 (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 1, 2024 Dec 6, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001037132.4:c.2705A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001032209.1:p.Lys902Thr missense NM_001193582.2:c.2705A>C NP_001180511.1:p.Lys902Thr missense NM_001193583.2:c.2648A>C NP_001180512.1:p.Lys883Thr missense NM_001193584.2:c.2648A>C NP_001180513.1:p.Lys883Thr missense NM_001371119.1:c.2648A>C NP_001358048.1:p.Lys883Thr missense NM_001371122.1:c.2648A>C NP_001358051.1:p.Lys883Thr missense NM_001371123.1:c.2705A>C NP_001358052.1:p.Lys902Thr missense NM_001371124.1:c.2648A>C NP_001358053.1:p.Lys883Thr missense NM_001371125.1:c.2360A>C NP_001358054.1:p.Lys787Thr missense NM_001371126.1:c.2648A>C NP_001358055.1:p.Lys883Thr missense NM_001371127.1:c.2702A>C NP_001358056.1:p.Lys901Thr missense NM_001371128.1:c.2705A>C NP_001358057.1:p.Lys902Thr missense NM_001371129.1:c.2648A>C NP_001358058.1:p.Lys883Thr missense NM_001371130.1:c.2657A>C NP_001358059.1:p.Lys886Thr missense NM_001371131.1:c.2705A>C NP_001358060.1:p.Lys902Thr missense NM_001371132.1:c.2648A>C NP_001358061.1:p.Lys883Thr missense NM_001371133.1:c.2657A>C NP_001358062.1:p.Lys886Thr missense NM_001371134.1:c.2654A>C NP_001358063.1:p.Lys885Thr missense NM_001371135.1:c.2648A>C NP_001358064.1:p.Lys883Thr missense NM_001371136.1:c.2657A>C NP_001358065.1:p.Lys886Thr missense NM_001371137.1:c.1748A>C NP_001358066.1:p.Lys583Thr missense NM_001371138.1:c.2705A>C NP_001358067.1:p.Lys902Thr missense NM_001371139.1:c.2648A>C NP_001358068.1:p.Lys883Thr missense NM_001371140.1:c.2648A>C NP_001358069.1:p.Lys883Thr missense NM_001371141.1:c.2648A>C NP_001358070.1:p.Lys883Thr missense NM_001371142.1:c.2360A>C NP_001358071.1:p.Lys787Thr missense NM_001371143.1:c.2360A>C NP_001358072.1:p.Lys787Thr missense NM_001371144.1:c.2705A>C NP_001358073.1:p.Lys902Thr missense NM_001371145.1:c.2648A>C NP_001358074.1:p.Lys883Thr missense NM_001371146.1:c.2648A>C NP_001358075.1:p.Lys883Thr missense NM_001371147.1:c.2360A>C NP_001358076.1:p.Lys787Thr missense NM_001371148.1:c.2387A>C NP_001358077.1:p.Lys796Thr missense NM_001371149.1:c.2705A>C NP_001358078.1:p.Lys902Thr missense NM_001371150.1:c.2675A>C NP_001358079.1:p.Lys892Thr missense NM_001371151.1:c.2657A>C NP_001358080.1:p.Lys886Thr missense NM_001371152.1:c.2657A>C NP_001358081.1:p.Lys886Thr missense NM_001371153.1:c.2705A>C NP_001358082.1:p.Lys902Thr missense NM_001371154.1:c.2648A>C NP_001358083.1:p.Lys883Thr missense NM_001371155.1:c.2648A>C NP_001358084.1:p.Lys883Thr missense NM_001371156.1:c.2705A>C NP_001358085.1:p.Lys902Thr missense NM_001371157.1:c.2657A>C NP_001358086.1:p.Lys886Thr missense NM_001371158.1:c.2648A>C NP_001358087.1:p.Lys883Thr missense NM_001371159.1:c.2675A>C NP_001358088.1:p.Lys892Thr missense NM_001371160.1:c.2687A>C NP_001358089.1:p.Lys896Thr missense NM_001371161.1:c.2705A>C NP_001358090.1:p.Lys902Thr missense NM_001371162.1:c.2648A>C NP_001358091.1:p.Lys883Thr missense NM_001371163.1:c.2648A>C NP_001358092.1:p.Lys883Thr missense NM_001371164.1:c.2360A>C NP_001358093.1:p.Lys787Thr missense NM_001371165.1:c.2648A>C NP_001358094.1:p.Lys883Thr missense NM_001371166.1:c.2648A>C NP_001358095.1:p.Lys883Thr missense NM_001371167.1:c.2648A>C NP_001358096.1:p.Lys883Thr missense NM_001371168.1:c.2705A>C NP_001358097.1:p.Lys902Thr missense NM_001371169.1:c.2705A>C NP_001358098.1:p.Lys902Thr missense NM_001371170.1:c.2387A>C NP_001358099.1:p.Lys796Thr missense NM_001371171.1:c.2657A>C NP_001358100.1:p.Lys886Thr missense NM_001371172.1:c.2648A>C NP_001358101.1:p.Lys883Thr missense NM_001371173.1:c.2705A>C NP_001358102.1:p.Lys902Thr missense NM_001371174.1:c.2675A>C NP_001358103.1:p.Lys892Thr missense NM_001371175.1:c.2657A>C NP_001358104.1:p.Lys886Thr missense NM_001371176.1:c.2657A>C NP_001358105.1:p.Lys886Thr missense NM_001371177.1:c.2648A>C NP_001358106.1:p.Lys883Thr missense NM_001371178.1:c.2657A>C NP_001358107.1:p.Lys886Thr missense NM_001371179.1:c.2387A>C NP_001358108.1:p.Lys796Thr missense NM_001371180.1:c.2387A>C NP_001358109.1:p.Lys796Thr missense NM_001371181.1:c.2648A>C NP_001358110.1:p.Lys883Thr missense NM_001371182.1:c.2600A>C NP_001358111.1:p.Lys867Thr missense NM_005010.5:c.2657A>C NP_005001.3:p.Lys886Thr missense NR_163867.1:n.3173A>C non-coding transcript variant NR_163868.1:n.3173A>C non-coding transcript variant NR_163869.1:n.3173A>C non-coding transcript variant NR_163870.1:n.3254A>C non-coding transcript variant NR_163871.1:n.3252A>C non-coding transcript variant NC_000007.14:g.108180369T>G NC_000007.13:g.107820813T>G NG_029898.2:g.281349A>C - Protein change
- K583T, K787T, K796T, K867T, K883T, K885T, K886T, K892T, K896T, K901T, K902T
- Other names
- -
- Canonical SPDI
- NC_000007.14:108180368:T:G
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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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0.00020 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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1000 Genomes Project 30x 0.00016
The Genome Aggregation Database (gnomAD) 0.00019
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00025
- 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. |
|---|---|---|---|---|
|
NRCAM-related disorder
|
Pathogenic (1) |
no assertion criteria provided
|
Dec 28, 2021 | RCV001824189.1 |
| Uncertain significance (1) |
criteria provided, single submitter
|
Dec 6, 2021 | RCV002541338.2 |
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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|---|---|---|---|---|---|
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Uncertain significance
(Dec 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003612720.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2705A>C (p.K902T) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to C substitution … (more)
The c.2705A>C (p.K902T) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to C substitution at nucleotide position 2705, causing the lysine (K) at amino acid position 902 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
|
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Pathogenic
(Dec 28, 2021)
|
no assertion criteria provided
Method: research
|
NRCAM-related disorder
Affected status: yes
Allele origin:
inherited
|
Genetics Institute, Tel Aviv Sourasky Medical Center
Accession: SCV002044490.1
First in ClinVar: Feb 10, 2022 Last updated: Feb 10, 2022 |
|
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.2705A>C (p.K902T) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to C substitution at nucleotide position 2705, causing the lysine (K) at amino acid position 902 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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 rs139634064 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record 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.