NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) AND Sotos syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 8, 2013
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:: RCV003231199.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)]

NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)

HGVS:

NC_000005.10:g.177211443GT[1]
NG_009821.1:g.83365GT[1]
NM_001365684.2:c.2171_2172GT[1]
NM_001409301.1:c.3044_3045GT[1]
NM_001409302.1:c.3044_3045GT[1]
NM_001409303.1:c.3044_3045GT[1]
NM_001409304.1:c.2624_2625GT[1]
NM_001409305.1:c.2291_2292GT[1]
NM_001409306.1:c.2171_2172GT[1]
NM_001409307.1:c.2171_2172GT[1]
NM_001409308.1:c.2171_2172GT[1]
NM_001409309.1:c.2171_2172GT[1]
NM_022455.5:c.3046_3047delMANE SELECT
NM_172349.5:c.2171_2172GT[1]
NP_001352613.1:p.Val747fs
NP_001352613.2:p.Val725Tyrfs
NP_001396230.1:p.Val1016Tyrfs
NP_001396231.1:p.Val1016Tyrfs
NP_001396232.1:p.Val1016Tyrfs
NP_001396233.1:p.Val876Tyrfs
NP_001396234.1:p.Val765Tyrfs
NP_001396235.1:p.Val725Tyrfs
NP_001396236.1:p.Val725Tyrfs
NP_001396237.1:p.Val725Tyrfs
NP_001396238.1:p.Val725Tyrfs
NP_071900.2:p.Val1016Tyrfs
NP_071900.2:p.Val1016fs
NP_758859.1:p.Val747fs
NP_758859.2:p.Val725Tyrfs
LRG_512t1:c.3044_3045GT[1]
LRG_512:g.83365GT[1]
LRG_512p1:p.Val1016Tyrfs
NC_000005.9:g.176638444GT[1]
NM_001365684.1:c.2239_2240del
NM_022455.4:c.3044_3045GT[1]
NM_022455.4:c.3046_3047del
NM_172349.3:c.2239_2240del

Protein change:

V1016fs

Links:

dbSNP: rs587784094

NCBI 1000 Genomes Browser:

rs587784094

Molecular consequence:

NM_001365684.2:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409301.1:c.3044_3045GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409302.1:c.3044_3045GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409303.1:c.3044_3045GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409304.1:c.2624_2625GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409305.1:c.2291_2292GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409306.1:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409307.1:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409308.1:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409309.1:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022455.5:c.3046_3047del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172349.5:c.2171_2172GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]

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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HVA22-like protein a [Momordica charantia]
HVA22-like protein a [Momordica charantia]
gi|1229769082|ref|XP_022137380.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000194125	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 8, 2013)	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

SCV000194125

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 8, 2013)

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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194125.1

#	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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