NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) AND Sotos syndrome 1

Clinical significance:Pathogenic (Last evaluated: May 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001389135.1

Allele description [Variation Report for NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)]

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

Gene:
NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
HGVS:
  • NC_000005.10:g.177210761C>T
  • NG_009821.1:g.82683C>T
  • NM_001365684.1:c.1555C>T
  • NM_022455.5:c.2362C>TMANE SELECT
  • NM_172349.3:c.1555C>T
  • NP_001352613.1:p.Arg519Ter
  • NP_071900.2:p.Arg788Ter
  • NP_071900.2:p.Arg788Ter
  • NP_758859.1:p.Arg519Ter
  • LRG_512t1:c.2362C>T
  • LRG_512:g.82683C>T
  • LRG_512p1:p.Arg788Ter
  • NC_000005.9:g.176637762C>T
  • NM_022455.4:c.2362C>T
Protein change:
R519*
Links:
dbSNP: rs1057520339
NCBI 1000 Genomes Browser:
rs1057520339
Molecular consequence:
  • NM_001365684.1:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022455.5:c.2362C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172349.3:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Sotos syndrome 1 (SOTOS1)
Synonyms:
Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; CHROMOSOME 5q35 DELETION SYNDROME
Identifiers:
MONDO: MONDO:0007299; MedGen: C4551477; Orphanet: 821; OMIM: 117550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001590380Invitaecriteria provided, single submitter
Pathogenic
(May 5, 2016)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V.

J Med Genet. 2003 Jun;40(6):436-40.

PubMed [citation]
PMID:
12807965
PMCID:
PMC1735492

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration..

Am J Hum Genet. 2005 Aug;77(2):193-204. Epub 2005 Jun 7.

PubMed [citation]
PMID:
15942875
PMCID:
PMC1224542
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001590380.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

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 or disrupted protein product. Truncating variants in NSD1 are known to be pathogenic (PMID: 12807965, 15942875, 17565729). This particular variant has been observed in several individuals with Sotos syndrome (PMID: 15942875, 17565729, 23190751). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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