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NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 14, 2014
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:
RCV000415049.1

Allele description

NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)

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.6050G>A (p.Arg2017Gln)
HGVS:
  • NC_000005.10:g.177283827G>A
  • NG_009821.1:g.155749G>A
  • NM_001365684.1:c.5243G>A
  • NM_022455.5:c.6050G>AMANE SELECT
  • NM_172349.3:c.5243G>A
  • NP_001352613.1:p.Arg1748Gln
  • NP_071900.2:p.Arg2017Gln
  • NP_071900.2:p.Arg2017Gln
  • NP_758859.1:p.Arg1748Gln
  • NP_758859.1:p.Arg1748Gln
  • LRG_512t1:c.6050G>A
  • LRG_512:g.155749G>A
  • LRG_512p1:p.Arg2017Gln
  • NC_000005.9:g.176710828G>A
  • NM_022455.4:c.6050G>A
  • NM_172349.2:c.5243G>A
  • Q96L73:p.Arg2017Gln
Protein change:
R1748Q
Links:
UniProtKB: Q96L73#VAR_015790; dbSNP: rs587784177
NCBI 1000 Genomes Browser:
rs587784177
Molecular consequence:
  • NM_001365684.1:c.5243G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022455.5:c.6050G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172349.3:c.5243G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Hypoplasia of the corpus callosum
Synonyms:
Corpus callosum hypoplasia
Identifiers:
MedGen: C0344482; Human Phenotype Ontology: HP:0002079
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Delayed gross motor development
Identifiers:
MedGen: C1837658; Human Phenotype Ontology: HP:0002194
Name:
High anterior hairline
Identifiers:
MedGen: C3276036; Human Phenotype Ontology: HP:0009890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493005Centre for Mendelian Genomics,University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 14, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000493005.1

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

Last Updated: Jun 15, 2022