NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Mar 21, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760285.1

Allele description [Variation Report for NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer)]

NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer)

Gene:
NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer)
HGVS:
  • NC_000005.10:g.177210253del
  • NG_009821.1:g.82175del
  • NM_001365684.1:c.1047del
  • NM_022455.4:c.1854del
  • NM_172349.2:c.1047del
  • NP_001352613.1:p.Lys349_Val350insTer
  • NP_071900.2:p.Lys618_Val619insTer
  • NP_758859.1:p.Lys349_Val350insTer
  • LRG_512t1:c.1854del
  • LRG_512:g.82175del
  • LRG_512p1:p.Lys618_Val619insTer
  • NC_000005.9:g.176637254del
  • NM_022455.4:c.1854delA
Links:
dbSNP: rs1562206791
NCBI 1000 Genomes Browser:
rs1562206791
Molecular consequence:
  • NM_001365684.1:c.1047del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022455.4:c.1854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172349.2:c.1047del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Sotos syndrome 1 (SOTOS1)
Synonyms:
Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; CHROMOSOME 5q35 DELETION SYNDROME
Identifiers:
MONDO: MONDO:0007299; MedGen: C4551477; Orphanet: 821; OMIM: 117550
Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890126Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Pathogenic
(Mar 21, 2017)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical 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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV000890126.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

Support Center