NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) AND Sotos syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 27, 2020
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:: RCV003232278.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)]

NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)

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.3418_3419del (p.Val1140fs)

HGVS:

NC_000005.10:g.177211817_177211818del
NG_009821.1:g.83739_83740del
NM_001365684.2:c.2545_2546delGT
NM_001409301.1:c.3418_3419delGT
NM_001409302.1:c.3418_3419delGT
NM_001409303.1:c.3418_3419delGT
NM_001409304.1:c.2998_2999delGT
NM_001409305.1:c.2665_2666delGT
NM_001409306.1:c.2545_2546delGT
NM_001409307.1:c.2545_2546delGT
NM_001409308.1:c.2545_2546delGT
NM_001409309.1:c.2545_2546delGT
NM_022455.5:c.3418_3419delMANE SELECT
NM_172349.5:c.2545_2546delGT
NP_001352613.1:p.Val871fs
NP_001352613.2:p.Val849Asnfs
NP_001396230.1:p.Val1140Asnfs
NP_001396231.1:p.Val1140Asnfs
NP_001396232.1:p.Val1140Asnfs
NP_001396233.1:p.Val1000Asnfs
NP_001396234.1:p.Val889Asnfs
NP_001396235.1:p.Val849Asnfs
NP_001396236.1:p.Val849Asnfs
NP_001396237.1:p.Val849Asnfs
NP_001396238.1:p.Val849Asnfs
NP_071900.2:p.Val1140Asnfs
NP_071900.2:p.Val1140fs
NP_758859.1:p.Val871fs
NP_758859.2:p.Val849Asnfs
LRG_512t1:c.3418_3419del
LRG_512:g.83739_83740del
NC_000005.9:g.176638818_176638819del
NM_001365684.1:c.2611_2612del
NM_022455.4:c.3418_3419del
NM_022455.4:c.3418_3419delGT
NM_172349.3:c.2611_2612del

Protein change:

V1140fs

Links:

dbSNP: rs1763367673

NCBI 1000 Genomes Browser:

rs1763367673

Molecular consequence:

NM_001365684.2:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409301.1:c.3418_3419delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409302.1:c.3418_3419delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409303.1:c.3418_3419delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409304.1:c.2998_2999delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409305.1:c.2665_2666delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409306.1:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409307.1:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409308.1:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001409309.1:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022455.5:c.3418_3419del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172349.5:c.2545_2546delGT - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439286	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 27, 2020)	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

SCV001439286

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 27, 2020)

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	1	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 Institute of Human Genetics, University of Goettingen, SCV001439286.1

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine