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NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 22, 2021)
Last evaluated:
Sep 21, 2021
Accession:
VCV000378304.5
Variation ID:
378304
Description:
single nucleotide variant
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NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)

Allele ID
368565
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q35.3
Genomic location
5: 177210761 (GRCh38) GRCh38 UCSC
5: 176637762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.176637762C>T
NM_022455.4:c.2362C>T NP_071900.2:p.Arg788Ter nonsense
NC_000005.10:g.177210761C>T
... more HGVS
Protein change
R788*, R519*
Other names
-
Canonical SPDI
NC_000005.10:177210760:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16604930
dbSNP: rs1057520339
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 21, 2021 RCV000436276.3
Pathogenic 1 criteria provided, single submitter May 5, 2016 RCV000460451.1
Pathogenic 1 criteria provided, single submitter Mar 20, 2018 RCV001336054.1
Pathogenic 1 criteria provided, single submitter May 5, 2016 RCV001389135.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NSD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1090 1150

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 05, 2016)
criteria provided, single submitter
Method: clinical testing
Beckwith-Wiedemann syndrome
Allele origin: germline
Invitae
Accession: SCV000546559.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 788 (p.Arg788*) of the NSD1 gene. It is expected to result in an absent … (more)
Pathogenic
(Sep 21, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000513987.5
Submitted: (Oct 22, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Pathogenic
(Mar 20, 2018)
criteria provided, single submitter
Method: clinical testing
Acute myeloid leukemia
Allele origin: de novo
Baylor Genetics
Accession: SCV001529339.1
Submitted: (Mar 05, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Sotos syndrome [PMID … (more)
Pathogenic
(May 05, 2016)
criteria provided, single submitter
Method: clinical testing
Sotos syndrome 1
Allele origin: germline
Invitae
Accession: SCV001590380.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal at codon 788 (p.Arg788*) of the NSD1 gene. It is expected to result in an absent … (more)

Functional evidence

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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.

Citations for this variant

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Title Author Journal Year Link
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. Sohn YB Journal of human genetics 2013 PMID: 23190751
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Saugier-Veber P Human mutation 2007 PMID: 17565729
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Tatton-Brown K American journal of human genetics 2005 PMID: 15942875
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Rio M Journal of medical genetics 2003 PMID: 12807965

Text-mined citations for rs1057520339...

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These 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 Nov 27, 2021