NM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 7, 2022
- 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:
- RCV002970428.2
Allele description [Variation Report for NM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser)]
NM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser)
- 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.2795A>G (p.Asn932Ser)
- HGVS:
- NC_000007.14:g.108180279T>C
- NG_029898.2:g.281439A>G
- NM_001037132.4:c.2795A>GMANE SELECT
- NM_001193582.2:c.2795A>G
- NM_001193583.2:c.2738A>G
- NM_001193584.2:c.2738A>G
- NM_001371119.1:c.2738A>G
- NM_001371122.1:c.2738A>G
- NM_001371123.1:c.2795A>G
- NM_001371124.1:c.2738A>G
- NM_001371125.1:c.2450A>G
- NM_001371126.1:c.2738A>G
- NM_001371127.1:c.2792A>G
- NM_001371128.1:c.2795A>G
- NM_001371129.1:c.2738A>G
- NM_001371130.1:c.2747A>G
- NM_001371131.1:c.2795A>G
- NM_001371132.1:c.2738A>G
- NM_001371133.1:c.2747A>G
- NM_001371134.1:c.2744A>G
- NM_001371135.1:c.2738A>G
- NM_001371136.1:c.2747A>G
- NM_001371137.1:c.1838A>G
- NM_001371138.1:c.2795A>G
- NM_001371139.1:c.2738A>G
- NM_001371140.1:c.2738A>G
- NM_001371141.1:c.2738A>G
- NM_001371142.1:c.2450A>G
- NM_001371143.1:c.2450A>G
- NM_001371144.1:c.2795A>G
- NM_001371145.1:c.2738A>G
- NM_001371146.1:c.2738A>G
- NM_001371147.1:c.2450A>G
- NM_001371148.1:c.2477A>G
- NM_001371149.1:c.2795A>G
- NM_001371150.1:c.2765A>G
- NM_001371151.1:c.2747A>G
- NM_001371152.1:c.2747A>G
- NM_001371153.1:c.2795A>G
- NM_001371154.1:c.2738A>G
- NM_001371155.1:c.2738A>G
- NM_001371156.1:c.2795A>G
- NM_001371157.1:c.2747A>G
- NM_001371158.1:c.2738A>G
- NM_001371159.1:c.2765A>G
- NM_001371160.1:c.2777A>G
- NM_001371161.1:c.2795A>G
- NM_001371162.1:c.2738A>G
- NM_001371163.1:c.2738A>G
- NM_001371164.1:c.2450A>G
- NM_001371165.1:c.2738A>G
- NM_001371166.1:c.2738A>G
- NM_001371167.1:c.2738A>G
- NM_001371168.1:c.2795A>G
- NM_001371169.1:c.2795A>G
- NM_001371170.1:c.2477A>G
- NM_001371171.1:c.2747A>G
- NM_001371172.1:c.2738A>G
- NM_001371173.1:c.2795A>G
- NM_001371174.1:c.2765A>G
- NM_001371175.1:c.2747A>G
- NM_001371176.1:c.2747A>G
- NM_001371177.1:c.2738A>G
- NM_001371178.1:c.2747A>G
- NM_001371179.1:c.2477A>G
- NM_001371180.1:c.2477A>G
- NM_001371181.1:c.2738A>G
- NM_001371182.1:c.2690A>G
- NM_005010.5:c.2747A>G
- NP_001032209.1:p.Asn932Ser
- NP_001180511.1:p.Asn932Ser
- NP_001180512.1:p.Asn913Ser
- NP_001180513.1:p.Asn913Ser
- NP_001358048.1:p.Asn913Ser
- NP_001358051.1:p.Asn913Ser
- NP_001358052.1:p.Asn932Ser
- NP_001358053.1:p.Asn913Ser
- NP_001358054.1:p.Asn817Ser
- NP_001358055.1:p.Asn913Ser
- NP_001358056.1:p.Asn931Ser
- NP_001358057.1:p.Asn932Ser
- NP_001358058.1:p.Asn913Ser
- NP_001358059.1:p.Asn916Ser
- NP_001358060.1:p.Asn932Ser
- NP_001358061.1:p.Asn913Ser
- NP_001358062.1:p.Asn916Ser
- NP_001358063.1:p.Asn915Ser
- NP_001358064.1:p.Asn913Ser
- NP_001358065.1:p.Asn916Ser
- NP_001358066.1:p.Asn613Ser
- NP_001358067.1:p.Asn932Ser
- NP_001358068.1:p.Asn913Ser
- NP_001358069.1:p.Asn913Ser
- NP_001358070.1:p.Asn913Ser
- NP_001358071.1:p.Asn817Ser
- NP_001358072.1:p.Asn817Ser
- NP_001358073.1:p.Asn932Ser
- NP_001358074.1:p.Asn913Ser
- NP_001358075.1:p.Asn913Ser
- NP_001358076.1:p.Asn817Ser
- NP_001358077.1:p.Asn826Ser
- NP_001358078.1:p.Asn932Ser
- NP_001358079.1:p.Asn922Ser
- NP_001358080.1:p.Asn916Ser
- NP_001358081.1:p.Asn916Ser
- NP_001358082.1:p.Asn932Ser
- NP_001358083.1:p.Asn913Ser
- NP_001358084.1:p.Asn913Ser
- NP_001358085.1:p.Asn932Ser
- NP_001358086.1:p.Asn916Ser
- NP_001358087.1:p.Asn913Ser
- NP_001358088.1:p.Asn922Ser
- NP_001358089.1:p.Asn926Ser
- NP_001358090.1:p.Asn932Ser
- NP_001358091.1:p.Asn913Ser
- NP_001358092.1:p.Asn913Ser
- NP_001358093.1:p.Asn817Ser
- NP_001358094.1:p.Asn913Ser
- NP_001358095.1:p.Asn913Ser
- NP_001358096.1:p.Asn913Ser
- NP_001358097.1:p.Asn932Ser
- NP_001358098.1:p.Asn932Ser
- NP_001358099.1:p.Asn826Ser
- NP_001358100.1:p.Asn916Ser
- NP_001358101.1:p.Asn913Ser
- NP_001358102.1:p.Asn932Ser
- NP_001358103.1:p.Asn922Ser
- NP_001358104.1:p.Asn916Ser
- NP_001358105.1:p.Asn916Ser
- NP_001358106.1:p.Asn913Ser
- NP_001358107.1:p.Asn916Ser
- NP_001358108.1:p.Asn826Ser
- NP_001358109.1:p.Asn826Ser
- NP_001358110.1:p.Asn913Ser
- NP_001358111.1:p.Asn897Ser
- NP_005001.3:p.Asn916Ser
- NC_000007.13:g.107820723T>C
- NM_001037132.2:c.2795A>G
- NR_163867.1:n.3263A>G
- NR_163868.1:n.3263A>G
- NR_163869.1:n.3263A>G
- NR_163870.1:n.3344A>G
- NR_163871.1:n.3342A>G
This HGVS expression did not pass validation- Protein change:
- N613S
- Molecular consequence:
- NM_001037132.4:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193582.2:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193583.2:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001193584.2:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371119.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371122.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371123.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371124.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371125.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371126.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371127.1:c.2792A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371128.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371129.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371130.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371131.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371132.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371133.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371134.1:c.2744A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371135.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371136.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371137.1:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371138.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371139.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371140.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371141.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371142.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371143.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371144.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371145.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371146.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371147.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371148.1:c.2477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371149.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371150.1:c.2765A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371151.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371152.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371153.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371154.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371155.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371156.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371157.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371158.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371159.1:c.2765A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371160.1:c.2777A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371161.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371162.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371163.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371164.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371165.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371166.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371167.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371168.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371169.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371170.1:c.2477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371171.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371172.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371173.1:c.2795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371174.1:c.2765A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371175.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371176.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371177.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371178.1:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371179.1:c.2477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371180.1:c.2477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371181.1:c.2738A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001371182.1:c.2690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_005010.5:c.2747A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_163867.1:n.3263A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163868.1:n.3263A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163869.1:n.3263A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163870.1:n.3344A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_163871.1:n.3342A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003703195 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Oct 7, 2022) | 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, SCV003703195.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2795A>G (p.N932S) alteration is located in exon 22 (coding exon 22) of the NRCAM gene. This alteration results from a A to G substitution at nucleotide position 2795, causing the asparagine (N) at amino acid position 932 to be replaced by a serine (S). 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: May 1, 2024