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NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000159391.1
Variation ID:
159391
Description:
single nucleotide variant
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NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter)

Allele ID
168243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q35.3
Genomic location
5: 177282537 (GRCh38) GRCh38 UCSC
5: 176709538 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_512:g.154459C>T
NC_000005.10:g.177282537C>T
NC_000005.9:g.176709538C>T
... more HGVS
Protein change
Q1989*, Q1720*
Other names
-
Canonical SPDI
NC_000005.10:177282536:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA295012
dbSNP: rs587784170
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 Feb 8, 2013 RCV000146899.1
Pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000763137.1
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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
1038 1098

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 08, 2013)
criteria provided, single submitter
Method: clinical testing
Sotos syndrome 1
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000194228.1
Submitted: (Sep 11, 2014)
Evidence details
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Sotos syndrome 1
Acute myeloid leukemia
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893697.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs587784170...

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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 Oct 08, 2021