NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) AND Sotos syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV003231569.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)]

NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)

Gene:

NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)

HGVS:

NC_000005.10:g.177211435_177211453dup
NG_009821.1:g.83357_83375dup
NM_001365684.2:c.2163_2181dup
NM_001409301.1:c.3036_3054dup
NM_001409302.1:c.3036_3054dup
NM_001409303.1:c.3036_3054dup
NM_001409304.1:c.2616_2634dup
NM_001409305.1:c.2283_2301dup
NM_001409306.1:c.2163_2181dup
NM_001409307.1:c.2163_2181dup
NM_001409308.1:c.2163_2181dup
NM_001409309.1:c.2163_2181dup
NM_022455.5:c.3036_3054dupMANE SELECT
NM_172349.5:c.2163_2181dup
NP_001352613.1:p.Arg750delinsPheArgLeuCysTyrTer
NP_001352613.2:p.Arg728Phefs
NP_001396230.1:p.Arg1019Phefs
NP_001396231.1:p.Arg1019Phefs
NP_001396232.1:p.Arg1019Phefs
NP_001396233.1:p.Arg879Phefs
NP_001396234.1:p.Arg768Phefs
NP_001396235.1:p.Arg728Phefs
NP_001396236.1:p.Arg728Phefs
NP_001396237.1:p.Arg728Phefs
NP_001396238.1:p.Arg728Phefs
NP_071900.2:p.Arg1019Phefs
NP_071900.2:p.Arg1019delinsPheArgLeuCysTyrTer
NP_758859.1:p.Arg750delinsPheArgLeuCysTyrTer
NP_758859.2:p.Arg728Phefs
LRG_512t1:c.3036_3054dup
LRG_512:g.83357_83375dup
LRG_512p1:p.Arg1019Phefs
NC_000005.9:g.176638436_176638454dup
NM_001365684.1:c.2229_2247dup
NM_022455.4:c.3036_3054dup
NM_022455.4:c.3036_3054dupTTCAGACTGTGTTACTAGG
NM_172349.3:c.2229_2247dup

Links:

dbSNP: rs1554189972

NCBI 1000 Genomes Browser:

rs1554189972

Molecular consequence:

NM_001365684.2:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409301.1:c.3036_3054dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409302.1:c.3036_3054dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409303.1:c.3036_3054dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409304.1:c.2616_2634dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409305.1:c.2283_2301dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409306.1:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409307.1:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409308.1:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409309.1:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172349.5:c.2163_2181dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022455.5:c.3036_3054dup - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782177	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000782177

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782177.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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