NM_022455.5(NSD1):c.480C>T (p.Asp160=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jun 16, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000242375.3

Allele description [Variation Report for NM_022455.5(NSD1):c.480C>T (p.Asp160=)]

NM_022455.5(NSD1):c.480C>T (p.Asp160=)

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.480C>T (p.Asp160=)
HGVS:
  • NC_000005.10:g.177135583C>T
  • NG_009821.1:g.7505C>T
  • NM_001365684.1:c.31-358C>T
  • NM_022455.4:c.480C>T
  • NM_022455.5:c.480C>TMANE SELECT
  • NM_172349.3:c.31-358C>T
  • NP_071900.2:p.Asp160=
  • NP_071900.2:p.Asp160=
  • LRG_512t1:c.480C>T
  • LRG_512:g.7505C>T
  • LRG_512p1:p.Asp160=
  • NC_000005.9:g.176562584C>T
Links:
dbSNP: rs79427433
NCBI 1000 Genomes Browser:
rs79427433
Molecular consequence:
  • NM_001365684.1:c.31-358C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172349.3:c.31-358C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022455.4:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022455.5:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000314069PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

SCV000332289EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 16, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 PreventionGenetics,PreventionGenetics, SCV000314069.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332289.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 6, 2021

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