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NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) AND Sotos syndrome

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Sep 16, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003231201.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)]

NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)

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.3089T>C (p.Leu1030Ser)
HGVS:
  • NC_000005.10:g.177211488T>C
  • NG_009821.1:g.83410T>C
  • NM_001365684.2:c.2216T>C
  • NM_001409301.1:c.3089T>C
  • NM_001409302.1:c.3089T>C
  • NM_001409303.1:c.3089T>C
  • NM_001409304.1:c.2669T>C
  • NM_001409305.1:c.2336T>C
  • NM_001409306.1:c.2216T>C
  • NM_001409307.1:c.2216T>C
  • NM_001409308.1:c.2216T>C
  • NM_001409309.1:c.2216T>C
  • NM_022455.5:c.3089T>CMANE SELECT
  • NM_172349.5:c.2216T>C
  • NP_001352613.1:p.Leu761Ser
  • NP_001352613.2:p.Leu739Ser
  • NP_001396230.1:p.Leu1030Ser
  • NP_001396231.1:p.Leu1030Ser
  • NP_001396232.1:p.Leu1030Ser
  • NP_001396233.1:p.Leu890Ser
  • NP_001396234.1:p.Leu779Ser
  • NP_001396235.1:p.Leu739Ser
  • NP_001396236.1:p.Leu739Ser
  • NP_001396237.1:p.Leu739Ser
  • NP_001396238.1:p.Leu739Ser
  • NP_071900.2:p.Leu1030Ser
  • NP_071900.2:p.Leu1030Ser
  • NP_758859.1:p.Leu761Ser
  • NP_758859.2:p.Leu739Ser
  • LRG_512t1:c.3089T>C
  • LRG_512:g.83410T>C
  • LRG_512p1:p.Leu1030Ser
  • NC_000005.9:g.176638489T>C
  • NM_001365684.1:c.2282T>C
  • NM_022455.4:c.3089T>C
  • NM_172349.3:c.2282T>C
Protein change:
L1030S
Links:
dbSNP: rs200856103
NCBI 1000 Genomes Browser:
rs200856103
Molecular consequence:
  • NM_001365684.2:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409301.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409302.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409303.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409304.1:c.2669T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409305.1:c.2336T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409306.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409307.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409308.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409309.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022455.5:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172349.5:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002054860Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 2021) 		germlineclinical testing

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

SCV002797962Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Sep 16, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002054860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002797962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024