NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln) AND Sotos syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 7, 2022
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:: RCV003232529.8

Allele description

NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln)

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.3092G>A (p.Arg1031Gln)

HGVS:

NC_000005.10:g.177211491G>A
NG_009821.1:g.83413G>A
NM_001365684.2:c.2219G>A
NM_001409301.1:c.3092G>A
NM_001409302.1:c.3092G>A
NM_001409303.1:c.3092G>A
NM_001409304.1:c.2672G>A
NM_001409305.1:c.2339G>A
NM_001409306.1:c.2219G>A
NM_001409307.1:c.2219G>A
NM_001409308.1:c.2219G>A
NM_001409309.1:c.2219G>A
NM_022455.5:c.3092G>AMANE SELECT
NM_172349.5:c.2219G>A
NP_001352613.1:p.Arg762Gln
NP_001352613.2:p.Arg740Gln
NP_001396230.1:p.Arg1031Gln
NP_001396231.1:p.Arg1031Gln
NP_001396232.1:p.Arg1031Gln
NP_001396233.1:p.Arg891Gln
NP_001396234.1:p.Arg780Gln
NP_001396235.1:p.Arg740Gln
NP_001396236.1:p.Arg740Gln
NP_001396237.1:p.Arg740Gln
NP_001396238.1:p.Arg740Gln
NP_071900.2:p.Arg1031Gln
NP_071900.2:p.Arg1031Gln
NP_758859.1:p.Arg762Gln
NP_758859.2:p.Arg740Gln
LRG_512t1:c.3092G>A
LRG_512:g.83413G>A
LRG_512p1:p.Arg1031Gln
NC_000005.9:g.176638492G>A
NM_001365684.1:c.2285G>A
NM_022455.4:c.3092G>A
NM_172349.3:c.2285G>A

Protein change:

R1031Q

Links:

dbSNP: rs780306768

NCBI 1000 Genomes Browser:

rs780306768

Molecular consequence:

NM_001365684.2:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2219G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002340805	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 7, 2022)	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

SCV002340805

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 7, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002340805.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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