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NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter) AND NRCAM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001824181.1

Allele description [Variation Report for NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)]

NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)

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.2785C>T (p.Arg929Ter)
HGVS:
  • NC_000007.14:g.108180289G>A
  • NG_029898.2:g.281429C>T
  • NM_001037132.4:c.2785C>TMANE SELECT
  • NM_001193582.2:c.2785C>T
  • NM_001193583.2:c.2728C>T
  • NM_001193584.2:c.2728C>T
  • NM_001371119.1:c.2728C>T
  • NM_001371122.1:c.2728C>T
  • NM_001371123.1:c.2785C>T
  • NM_001371124.1:c.2728C>T
  • NM_001371125.1:c.2440C>T
  • NM_001371126.1:c.2728C>T
  • NM_001371127.1:c.2782C>T
  • NM_001371128.1:c.2785C>T
  • NM_001371129.1:c.2728C>T
  • NM_001371130.1:c.2737C>T
  • NM_001371131.1:c.2785C>T
  • NM_001371132.1:c.2728C>T
  • NM_001371133.1:c.2737C>T
  • NM_001371134.1:c.2734C>T
  • NM_001371135.1:c.2728C>T
  • NM_001371136.1:c.2737C>T
  • NM_001371137.1:c.1828C>T
  • NM_001371138.1:c.2785C>T
  • NM_001371139.1:c.2728C>T
  • NM_001371140.1:c.2728C>T
  • NM_001371141.1:c.2728C>T
  • NM_001371142.1:c.2440C>T
  • NM_001371143.1:c.2440C>T
  • NM_001371144.1:c.2785C>T
  • NM_001371145.1:c.2728C>T
  • NM_001371146.1:c.2728C>T
  • NM_001371147.1:c.2440C>T
  • NM_001371148.1:c.2467C>T
  • NM_001371149.1:c.2785C>T
  • NM_001371150.1:c.2755C>T
  • NM_001371151.1:c.2737C>T
  • NM_001371152.1:c.2737C>T
  • NM_001371153.1:c.2785C>T
  • NM_001371154.1:c.2728C>T
  • NM_001371155.1:c.2728C>T
  • NM_001371156.1:c.2785C>T
  • NM_001371157.1:c.2737C>T
  • NM_001371158.1:c.2728C>T
  • NM_001371159.1:c.2755C>T
  • NM_001371160.1:c.2767C>T
  • NM_001371161.1:c.2785C>T
  • NM_001371162.1:c.2728C>T
  • NM_001371163.1:c.2728C>T
  • NM_001371164.1:c.2440C>T
  • NM_001371165.1:c.2728C>T
  • NM_001371166.1:c.2728C>T
  • NM_001371167.1:c.2728C>T
  • NM_001371168.1:c.2785C>T
  • NM_001371169.1:c.2785C>T
  • NM_001371170.1:c.2467C>T
  • NM_001371171.1:c.2737C>T
  • NM_001371172.1:c.2728C>T
  • NM_001371173.1:c.2785C>T
  • NM_001371174.1:c.2755C>T
  • NM_001371175.1:c.2737C>T
  • NM_001371176.1:c.2737C>T
  • NM_001371177.1:c.2728C>T
  • NM_001371178.1:c.2737C>T
  • NM_001371179.1:c.2467C>T
  • NM_001371180.1:c.2467C>T
  • NM_001371181.1:c.2728C>T
  • NM_001371182.1:c.2680C>T
  • NM_005010.5:c.2737C>T
  • NP_001032209.1:p.Arg929Ter
  • NP_001180511.1:p.Arg929Ter
  • NP_001180512.1:p.Arg910Ter
  • NP_001180513.1:p.Arg910Ter
  • NP_001358048.1:p.Arg910Ter
  • NP_001358051.1:p.Arg910Ter
  • NP_001358052.1:p.Arg929Ter
  • NP_001358053.1:p.Arg910Ter
  • NP_001358054.1:p.Arg814Ter
  • NP_001358055.1:p.Arg910Ter
  • NP_001358056.1:p.Arg928Ter
  • NP_001358057.1:p.Arg929Ter
  • NP_001358058.1:p.Arg910Ter
  • NP_001358059.1:p.Arg913Ter
  • NP_001358060.1:p.Arg929Ter
  • NP_001358061.1:p.Arg910Ter
  • NP_001358062.1:p.Arg913Ter
  • NP_001358063.1:p.Arg912Ter
  • NP_001358064.1:p.Arg910Ter
  • NP_001358065.1:p.Arg913Ter
  • NP_001358066.1:p.Arg610Ter
  • NP_001358067.1:p.Arg929Ter
  • NP_001358068.1:p.Arg910Ter
  • NP_001358069.1:p.Arg910Ter
  • NP_001358070.1:p.Arg910Ter
  • NP_001358071.1:p.Arg814Ter
  • NP_001358072.1:p.Arg814Ter
  • NP_001358073.1:p.Arg929Ter
  • NP_001358074.1:p.Arg910Ter
  • NP_001358075.1:p.Arg910Ter
  • NP_001358076.1:p.Arg814Ter
  • NP_001358077.1:p.Arg823Ter
  • NP_001358078.1:p.Arg929Ter
  • NP_001358079.1:p.Arg919Ter
  • NP_001358080.1:p.Arg913Ter
  • NP_001358081.1:p.Arg913Ter
  • NP_001358082.1:p.Arg929Ter
  • NP_001358083.1:p.Arg910Ter
  • NP_001358084.1:p.Arg910Ter
  • NP_001358085.1:p.Arg929Ter
  • NP_001358086.1:p.Arg913Ter
  • NP_001358087.1:p.Arg910Ter
  • NP_001358088.1:p.Arg919Ter
  • NP_001358089.1:p.Arg923Ter
  • NP_001358090.1:p.Arg929Ter
  • NP_001358091.1:p.Arg910Ter
  • NP_001358092.1:p.Arg910Ter
  • NP_001358093.1:p.Arg814Ter
  • NP_001358094.1:p.Arg910Ter
  • NP_001358095.1:p.Arg910Ter
  • NP_001358096.1:p.Arg910Ter
  • NP_001358097.1:p.Arg929Ter
  • NP_001358098.1:p.Arg929Ter
  • NP_001358099.1:p.Arg823Ter
  • NP_001358100.1:p.Arg913Ter
  • NP_001358101.1:p.Arg910Ter
  • NP_001358102.1:p.Arg929Ter
  • NP_001358103.1:p.Arg919Ter
  • NP_001358104.1:p.Arg913Ter
  • NP_001358105.1:p.Arg913Ter
  • NP_001358106.1:p.Arg910Ter
  • NP_001358107.1:p.Arg913Ter
  • NP_001358108.1:p.Arg823Ter
  • NP_001358109.1:p.Arg823Ter
  • NP_001358110.1:p.Arg910Ter
  • NP_001358111.1:p.Arg894Ter
  • NP_005001.3:p.Arg913Ter
  • NC_000007.13:g.107820733G>A
  • NM_001037132.2:c.2785C>T
  • NR_163867.1:n.3253C>T
  • NR_163868.1:n.3253C>T
  • NR_163869.1:n.3253C>T
  • NR_163870.1:n.3334C>T
  • NR_163871.1:n.3332C>T
Protein change:
R610*; ARG929TER
Links:
OMIM: 601581.0001; dbSNP: rs2153275538
NCBI 1000 Genomes Browser:
rs2153275538
Molecular consequence:
  • NR_163867.1:n.3253C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163868.1:n.3253C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163869.1:n.3253C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163870.1:n.3334C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163871.1:n.3332C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001037132.4:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001193582.2:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001193583.2:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001193584.2:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371119.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371122.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371123.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371124.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371125.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371126.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371127.1:c.2782C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371128.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371129.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371130.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371131.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371132.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371133.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371134.1:c.2734C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371135.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371136.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371137.1:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371138.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371139.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371140.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371141.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371142.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371143.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371144.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371145.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371146.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371147.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371148.1:c.2467C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371149.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371150.1:c.2755C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371151.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371152.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371153.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371154.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371155.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371156.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371157.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371158.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371159.1:c.2755C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371160.1:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371161.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371162.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371163.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371164.1:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371165.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371166.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371167.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371168.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371169.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371170.1:c.2467C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371171.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371172.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371173.1:c.2785C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371174.1:c.2755C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371175.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371176.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371177.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371178.1:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371179.1:c.2467C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371180.1:c.2467C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371181.1:c.2728C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371182.1:c.2680C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005010.5:c.2737C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
NRCAM-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002044485Genetics Institute, Tel Aviv Sourasky Medical Center
no assertion criteria provided
Pathogenic
(Dec 28, 2021) 		inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, et al.

Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1.

PubMed [citation]
PMID:
35108495
PMCID:
PMC8948158

Details of each submission

From Genetics Institute, Tel Aviv Sourasky Medical Center, SCV002044485.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024