NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs) 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:: RCV003231378.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)]

NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)

HGVS:

NC_000005.10:g.177211659_177211665del
NG_009821.1:g.83581_83587del
NM_001365684.2:c.2387_2393delAAGAGGA
NM_001409301.1:c.3260_3266delAAGAGGA
NM_001409302.1:c.3260_3266delAAGAGGA
NM_001409303.1:c.3260_3266delAAGAGGA
NM_001409304.1:c.2840_2846delAAGAGGA
NM_001409305.1:c.2507_2513delAAGAGGA
NM_001409306.1:c.2387_2393delAAGAGGA
NM_001409307.1:c.2387_2393delAAGAGGA
NM_001409308.1:c.2387_2393delAAGAGGA
NM_001409309.1:c.2387_2393delAAGAGGA
NM_022455.5:c.3260_3266delMANE SELECT
NM_172349.5:c.2387_2393delAAGAGGA
NP_001352613.1:p.Lys818fs
NP_001352613.2:p.Lys796Ilefs
NP_001396230.1:p.Lys1087Ilefs
NP_001396231.1:p.Lys1087Ilefs
NP_001396232.1:p.Lys1087Ilefs
NP_001396233.1:p.Lys947Ilefs
NP_001396234.1:p.Lys836Ilefs
NP_001396235.1:p.Lys796Ilefs
NP_001396236.1:p.Lys796Ilefs
NP_001396237.1:p.Lys796Ilefs
NP_001396238.1:p.Lys796Ilefs
NP_071900.2:p.Lys1087Ilefs
NP_071900.2:p.Lys1087fs
NP_758859.1:p.Lys818fs
NP_758859.2:p.Lys796Ilefs
LRG_512t1:c.3260_3266del
LRG_512:g.83581_83587del
LRG_512p1:p.Lys1087Ilefs
NC_000005.9:g.176638660_176638666del
NM_001365684.1:c.2453_2459del
NM_022455.4:c.3259_3265del
NM_022455.4:c.3260_3266delAAGAGGA
NM_172349.3:c.2453_2459del

Protein change:

K1087fs

Links:

dbSNP: rs797045811

NCBI 1000 Genomes Browser:

rs797045811

Molecular consequence:

NM_001365684.2:c.2387_2393delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409301.1:c.3260_3266delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409302.1:c.3260_3266delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409303.1:c.3260_3266delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409304.1:c.2840_2846delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409305.1:c.2507_2513delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409306.1:c.2387_2393delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409307.1:c.2387_2393delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409308.1:c.2387_2393delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409309.1:c.2387_2393delAAGAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022455.5:c.3260_3266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172349.5:c.2387_2393delAAGAGGA - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000248321	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

SCV000248321

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, SCV000248321.1

#	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: Oct 26, 2024

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