U.S. flag

An official website of the United States government

NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 2022
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:
RCV002463102.8

Allele description [Variation Report for NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)]

NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)

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.649_650del (p.Glu216_Ser217insTer)
HGVS:
  • NC_000005.10:g.177135748AG[2]
  • NG_009821.1:g.7670AG[2]
  • NM_001365684.2:c.-36-193AG[2]
  • NM_001409301.1:c.649_650del
  • NM_001409302.1:c.649_650del
  • NM_001409303.1:c.649_650del
  • NM_001409304.1:c.418-193AG[2]
  • NM_001409305.1:c.-36-193AG[2]
  • NM_001409306.1:c.-36-193AG[2]
  • NM_001409307.1:c.-36-193AG[2]
  • NM_001409308.1:c.-36-193AG[2]
  • NM_001409309.1:c.-36-193AG[2]
  • NM_022455.5:c.649_650delMANE SELECT
  • NM_172349.5:c.-36-193AG[2]
  • NP_001396230.1:p.Glu216_Ser217insTer
  • NP_001396231.1:p.Glu216_Ser217insTer
  • NP_001396232.1:p.Glu216_Ser217insTer
  • NP_071900.2:p.Glu216_Ser217insTer
  • NP_071900.2:p.Ser217Terfs
  • LRG_512t1:c.649_650del
  • LRG_512:g.7670AG[2]
  • NC_000005.9:g.176562749AG[2]
  • NC_000005.9:g.176562749_176562750del
  • NM_022455.4:c.645_646AG[2]
  • NM_022455.4:c.649_650del
  • NM_022455.4:c.649_650delAG
Links:
dbSNP: rs1562098870
NCBI 1000 Genomes Browser:
rs1562098870
Molecular consequence:
  • NM_001365684.2:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409304.1:c.418-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409305.1:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409306.1:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409307.1:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409308.1:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409309.1:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172349.5:c.-36-193AG[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001409301.1:c.649_650del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409302.1:c.649_650del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409303.1:c.649_650del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022455.5:c.649_650del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002757449GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 22, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002757449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024