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NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 2016
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:
RCV000622888.2

Allele description [Variation Report for NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)]

NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)

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.3451_3452del (p.Val1151fs)
HGVS:
  • NC_000005.10:g.177211848GT[1]
  • NG_009821.1:g.83770GT[1]
  • NM_001365684.2:c.2576_2577GT[1]
  • NM_001409301.1:c.3449_3450GT[1]
  • NM_001409302.1:c.3449_3450GT[1]
  • NM_001409303.1:c.3449_3450GT[1]
  • NM_001409304.1:c.3029_3030GT[1]
  • NM_001409305.1:c.2696_2697GT[1]
  • NM_001409306.1:c.2576_2577GT[1]
  • NM_001409307.1:c.2576_2577GT[1]
  • NM_001409308.1:c.2576_2577GT[1]
  • NM_001409309.1:c.2576_2577GT[1]
  • NM_022455.5:c.3451_3452delMANE SELECT
  • NM_172349.5:c.2576_2577GT[1]
  • NP_001352613.1:p.Val882fs
  • NP_001352613.2:p.Val860Lysfs
  • NP_001396230.1:p.Val1151Lysfs
  • NP_001396231.1:p.Val1151Lysfs
  • NP_001396232.1:p.Val1151Lysfs
  • NP_001396233.1:p.Val1011Lysfs
  • NP_001396234.1:p.Val900Lysfs
  • NP_001396235.1:p.Val860Lysfs
  • NP_001396236.1:p.Val860Lysfs
  • NP_001396237.1:p.Val860Lysfs
  • NP_001396238.1:p.Val860Lysfs
  • NP_071900.2:p.Val1151Lysfs
  • NP_071900.2:p.Val1151fs
  • NP_758859.1:p.Val882fs
  • NP_758859.2:p.Val860Lysfs
  • LRG_512t1:c.3449_3450GT[1]
  • LRG_512:g.83770GT[1]
  • LRG_512p1:p.Val1151Lysfs
  • NC_000005.9:g.176638849GT[1]
  • NM_001365684.1:c.2644_2645del
  • NM_022455.4:c.3449_3450GT[1]
  • NM_022455.4:c.3451_3452delGT
  • NM_172349.3:c.2644_2645del
Protein change:
V1151fs
Links:
dbSNP: rs1554190262
NCBI 1000 Genomes Browser:
rs1554190262
Molecular consequence:
  • NM_001365684.2:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409301.1:c.3449_3450GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409302.1:c.3449_3450GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409303.1:c.3449_3450GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409304.1:c.3029_3030GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409305.1:c.2696_2697GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409306.1:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409307.1:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409308.1:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001409309.1:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022455.5:c.3451_3452del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172349.5:c.2576_2577GT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741535Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(May 25, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741535.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023