NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000436276.3

Allele description [Variation Report for NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)]

NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)

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.2362C>T (p.Arg788Ter)
HGVS:
  • NC_000005.10:g.177210761C>T
  • NG_009821.1:g.82683C>T
  • NM_001365684.1:c.1555C>T
  • NM_022455.5:c.2362C>TMANE SELECT
  • NM_172349.3:c.1555C>T
  • NP_001352613.1:p.Arg519Ter
  • NP_071900.2:p.Arg788Ter
  • NP_071900.2:p.Arg788Ter
  • NP_758859.1:p.Arg519Ter
  • LRG_512t1:c.2362C>T
  • LRG_512:g.82683C>T
  • LRG_512p1:p.Arg788Ter
  • NC_000005.9:g.176637762C>T
  • NM_022455.4:c.2362C>T
Protein change:
R519*
Links:
dbSNP: rs1057520339
NCBI 1000 Genomes Browser:
rs1057520339
Molecular consequence:
  • NM_001365684.1:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022455.5:c.2362C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172349.3:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV000513987GeneDxcriteria provided, single submitter
Pathogenic
(Sep 21, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000513987.5

#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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 23190751, 15942875, 22924495, 17565729, 29304373, 34013836, 32677741)

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

Last Updated: Dec 4, 2021

Support Center