NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2024
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004650421.1
Allele description [Variation Report for NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp)]
NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp)
- Gene:
- NRCAM:neuronal cell adhesion molecule [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 7q31.1
- Genomic location:
- Preferred name:
- NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp)
- HGVS:
- NC_000007.14:g.108178012C>G
- NG_029898.2:g.283706G>C
- NM_001037132.4:c.2952G>CMANE SELECT
- NM_001193582.2:c.2952G>C
- NM_001193583.2:c.2895G>C
- NM_001193584.2:c.2895G>C
- NM_001371119.1:c.2895G>C
- NM_001371122.1:c.2895G>C
- NM_001371123.1:c.2952G>C
- NM_001371124.1:c.2895G>C
- NM_001371125.1:c.2607G>C
- NM_001371126.1:c.2895G>C
- NM_001371127.1:c.2949G>C
- NM_001371128.1:c.2952G>C
- NM_001371129.1:c.2895G>C
- NM_001371130.1:c.2904G>C
- NM_001371131.1:c.2952G>C
- NM_001371132.1:c.2895G>C
- NM_001371133.1:c.2904G>C
- NM_001371134.1:c.2901G>C
- NM_001371135.1:c.2895G>C
- NM_001371136.1:c.2904G>C
- NM_001371137.1:c.1995G>C
- NM_001371138.1:c.2952G>C
- NM_001371139.1:c.2895G>C
- NM_001371140.1:c.2895G>C
- NM_001371141.1:c.2895G>C
- NM_001371142.1:c.2607G>C
- NM_001371143.1:c.2607G>C
- NM_001371144.1:c.2952G>C
- NM_001371145.1:c.2895G>C
- NM_001371146.1:c.2895G>C
- NM_001371147.1:c.2607G>C
- NM_001371148.1:c.2634G>C
- NM_001371149.1:c.2952G>C
- NM_001371150.1:c.2922G>C
- NM_001371151.1:c.2904G>C
- NM_001371152.1:c.2904G>C
- NM_001371153.1:c.2952G>C
- NM_001371154.1:c.2895G>C
- NM_001371155.1:c.2895G>C
- NM_001371156.1:c.2952G>C
- NM_001371157.1:c.2904G>C
- NM_001371158.1:c.2895G>C
- NM_001371159.1:c.2922G>C
- NM_001371160.1:c.2934G>C
- NM_001371161.1:c.2952G>C
- NM_001371162.1:c.2895G>C
- NM_001371163.1:c.2895G>C
- NM_001371164.1:c.2607G>C
- NM_001371165.1:c.2895G>C
- NM_001371166.1:c.2895G>C
- NM_001371167.1:c.2895G>C
- NM_001371168.1:c.2952G>C
- NM_001371169.1:c.2952G>C
- NM_001371170.1:c.2634G>C
- NM_001371171.1:c.2904G>C
- NM_001371172.1:c.2895G>C
- NM_001371173.1:c.2952G>C
- NM_001371174.1:c.2922G>C
- NM_001371175.1:c.2803+2211G>C
- NM_001371176.1:c.2904G>C
- NM_001371177.1:c.2895G>C
- NM_001371178.1:c.2904G>C
- NM_001371179.1:c.2634G>C
- NM_001371180.1:c.2634G>C
- NM_001371181.1:c.2895G>C
- NM_001371182.1:c.2847G>C
- NM_005010.5:c.2904G>C
- NP_001032209.1:p.Glu984Asp
- NP_001180511.1:p.Glu984Asp
- NP_001180512.1:p.Glu965Asp
- NP_001180513.1:p.Glu965Asp
- NP_001358048.1:p.Glu965Asp
- NP_001358051.1:p.Glu965Asp
- NP_001358052.1:p.Glu984Asp
- NP_001358053.1:p.Glu965Asp
- NP_001358054.1:p.Glu869Asp
- NP_001358055.1:p.Glu965Asp
- NP_001358056.1:p.Glu983Asp
- NP_001358057.1:p.Glu984Asp
- NP_001358058.1:p.Glu965Asp
- NP_001358059.1:p.Glu968Asp
- NP_001358060.1:p.Glu984Asp
- NP_001358061.1:p.Glu965Asp
- NP_001358062.1:p.Glu968Asp
- NP_001358063.1:p.Glu967Asp
- NP_001358064.1:p.Glu965Asp
- NP_001358065.1:p.Glu968Asp
- NP_001358066.1:p.Glu665Asp
- NP_001358067.1:p.Glu984Asp
- NP_001358068.1:p.Glu965Asp
- NP_001358069.1:p.Glu965Asp
- NP_001358070.1:p.Glu965Asp
- NP_001358071.1:p.Glu869Asp
- NP_001358072.1:p.Glu869Asp
- NP_001358073.1:p.Glu984Asp
- NP_001358074.1:p.Glu965Asp
- NP_001358075.1:p.Glu965Asp
- NP_001358076.1:p.Glu869Asp
- NP_001358077.1:p.Glu878Asp
- NP_001358078.1:p.Glu984Asp
- NP_001358079.1:p.Glu974Asp
- NP_001358080.1:p.Glu968Asp
- NP_001358081.1:p.Glu968Asp
- NP_001358082.1:p.Glu984Asp
- NP_001358083.1:p.Glu965Asp
- NP_001358084.1:p.Glu965Asp
- NP_001358085.1:p.Glu984Asp
- NP_001358086.1:p.Glu968Asp
- NP_001358087.1:p.Glu965Asp
- NP_001358088.1:p.Glu974Asp
- NP_001358089.1:p.Glu978Asp
- NP_001358090.1:p.Glu984Asp
- NP_001358091.1:p.Glu965Asp
- NP_001358092.1:p.Glu965Asp
- NP_001358093.1:p.Glu869Asp
- NP_001358094.1:p.Glu965Asp
- NP_001358095.1:p.Glu965Asp
- NP_001358096.1:p.Glu965Asp
- NP_001358097.1:p.Glu984Asp
- NP_001358098.1:p.Glu984Asp
- NP_001358099.1:p.Glu878Asp
- NP_001358100.1:p.Glu968Asp
- NP_001358101.1:p.Glu965Asp
- NP_001358102.1:p.Glu984Asp
- NP_001358103.1:p.Glu974Asp
- NP_001358105.1:p.Glu968Asp
- NP_001358106.1:p.Glu965Asp
- NP_001358107.1:p.Glu968Asp
- NP_001358108.1:p.Glu878Asp
- NP_001358109.1:p.Glu878Asp
- NP_001358110.1:p.Glu965Asp
- NP_001358111.1:p.Glu949Asp
- NP_005001.3:p.Glu968Asp
- NC_000007.13:g.107818457C>G
- NM_001037132.2:c.2952G>C
- NR_163867.1:n.3420G>C
- NR_163868.1:n.3420G>C
- NR_163869.1:n.3420G>C
- NR_163870.1:n.3501G>C
- NR_163871.1:n.3499G>C
This HGVS expression did not pass validation- Protein change:
- E665D
- Molecular consequence:
- NM_001371175.1:c.2803+2211G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001037132.4:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193582.2:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193583.2:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193584.2:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371119.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371122.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371123.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371124.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371125.1:c.2607G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371126.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371127.1:c.2949G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371128.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371129.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371130.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371131.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371132.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371133.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371134.1:c.2901G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371135.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371136.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371137.1:c.1995G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371138.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371139.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371140.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371141.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371142.1:c.2607G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371143.1:c.2607G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371144.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371145.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371146.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371147.1:c.2607G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371148.1:c.2634G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371149.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371150.1:c.2922G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371151.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371152.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371153.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371154.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371155.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371156.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371157.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371158.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371159.1:c.2922G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371160.1:c.2934G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371161.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371162.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371163.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371164.1:c.2607G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371165.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371166.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371167.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371168.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371169.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371170.1:c.2634G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371171.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371172.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371173.1:c.2952G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371174.1:c.2922G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371176.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371177.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371178.1:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371179.1:c.2634G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371180.1:c.2634G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371181.1:c.2895G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371182.1:c.2847G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_005010.5:c.2904G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_163867.1:n.3420G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163868.1:n.3420G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163869.1:n.3420G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163870.1:n.3501G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163871.1:n.3499G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
LOC123575590 [Homo sapiens]
LOC123575590 [Homo sapiens]Gene ID:123575590Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV005141193 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (May 21, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV005141193.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2952G>C (p.E984D) alteration is located in exon 23 (coding exon 23) of the NRCAM gene. This alteration results from a G to C substitution at nucleotide position 2952, causing the glutamic acid (E) at amino acid position 984 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Aug 11, 2024