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NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) AND Sotos syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003232568.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)]

NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)

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.3311A>G (p.His1104Arg)
HGVS:
  • NC_000005.10:g.177211710A>G
  • NG_009821.1:g.83632A>G
  • NM_001365684.2:c.2438A>G
  • NM_001409301.1:c.3311A>G
  • NM_001409302.1:c.3311A>G
  • NM_001409303.1:c.3311A>G
  • NM_001409304.1:c.2891A>G
  • NM_001409305.1:c.2558A>G
  • NM_001409306.1:c.2438A>G
  • NM_001409307.1:c.2438A>G
  • NM_001409308.1:c.2438A>G
  • NM_001409309.1:c.2438A>G
  • NM_022455.5:c.3311A>GMANE SELECT
  • NM_172349.5:c.2438A>G
  • NP_001352613.1:p.His835Arg
  • NP_001352613.2:p.His813Arg
  • NP_001396230.1:p.His1104Arg
  • NP_001396231.1:p.His1104Arg
  • NP_001396232.1:p.His1104Arg
  • NP_001396233.1:p.His964Arg
  • NP_001396234.1:p.His853Arg
  • NP_001396235.1:p.His813Arg
  • NP_001396236.1:p.His813Arg
  • NP_001396237.1:p.His813Arg
  • NP_001396238.1:p.His813Arg
  • NP_071900.2:p.His1104Arg
  • NP_071900.2:p.His1104Arg
  • NP_758859.1:p.His835Arg
  • NP_758859.2:p.His813Arg
  • LRG_512t1:c.3311A>G
  • LRG_512:g.83632A>G
  • LRG_512p1:p.His1104Arg
  • NC_000005.9:g.176638711A>G
  • NM_001365684.1:c.2504A>G
  • NM_022455.4:c.3311A>G
  • NM_172349.3:c.2504A>G
Protein change:
H1104R
Links:
dbSNP: rs758125212
NCBI 1000 Genomes Browser:
rs758125212
Molecular consequence:
  • NM_001365684.2:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409301.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409302.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409303.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409304.1:c.2891A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409305.1:c.2558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409306.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409307.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409308.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409309.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022455.5:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172349.5:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Sotos syndrome (SOTOS)
Synonyms:
Sotos' syndrome; Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019349; MedGen: C0175695; Orphanet: 821; OMIM: 117550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548764New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 2, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024