NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter) AND Sotos syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 8, 2017
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:: RCV003231535.11

Allele description [Variation Report for NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)]

NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)

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.3038C>G (p.Ser1013Ter)

HGVS:

NC_000005.10:g.177211437C>G
NG_009821.1:g.83359C>G
NM_001365684.2:c.2165C>G
NM_001409301.1:c.3038C>G
NM_001409302.1:c.3038C>G
NM_001409303.1:c.3038C>G
NM_001409304.1:c.2618C>G
NM_001409305.1:c.2285C>G
NM_001409306.1:c.2165C>G
NM_001409307.1:c.2165C>G
NM_001409308.1:c.2165C>G
NM_001409309.1:c.2165C>G
NM_022455.5:c.3038C>GMANE SELECT
NM_172349.5:c.2165C>G
NP_001352613.1:p.Ser744Ter
NP_001352613.2:p.Ser722Ter
NP_001396230.1:p.Ser1013Ter
NP_001396231.1:p.Ser1013Ter
NP_001396232.1:p.Ser1013Ter
NP_001396233.1:p.Ser873Ter
NP_001396234.1:p.Ser762Ter
NP_001396235.1:p.Ser722Ter
NP_001396236.1:p.Ser722Ter
NP_001396237.1:p.Ser722Ter
NP_001396238.1:p.Ser722Ter
NP_071900.2:p.Ser1013Ter
NP_071900.2:p.Ser1013Ter
NP_758859.1:p.Ser744Ter
NP_758859.2:p.Ser722Ter
LRG_512t1:c.3038C>G
LRG_512:g.83359C>G
LRG_512p1:p.Ser1013Ter
NC_000005.9:g.176638438C>G
NM_001365684.1:c.2231C>G
NM_022455.4:c.3038C>G
NM_172349.3:c.2231C>G

Protein change:

S1013*

Links:

dbSNP: rs1006906224

NCBI 1000 Genomes Browser:

rs1006906224

Molecular consequence:

NM_001365684.2:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409301.1:c.3038C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409302.1:c.3038C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409303.1:c.3038C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409304.1:c.2618C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409305.1:c.2285C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409306.1:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409307.1:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409308.1:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001409309.1:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_022455.5:c.3038C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_172349.5:c.2165C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000680320	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 8, 2017)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680320

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 8, 2017)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680320.1

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

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine