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NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) AND Rauch-Steindl syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 10, 2023
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:
RCV003227533.8

Allele description [Variation Report for NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)]

NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)

Gene:
NSD2:nuclear receptor binding SET domain protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)
HGVS:
  • NC_000004.12:g.1961132A>G
  • NG_009269.1:g.94737A>G
  • NM_001042424.3:c.3353A>GMANE SELECT
  • NM_133330.3:c.3353A>G
  • NM_133331.3:c.3353A>G
  • NM_133335.4:c.3353A>G
  • NP_001035889.1:p.Tyr1118Cys
  • NP_579877.1:p.Tyr1118Cys
  • NP_579878.1:p.Tyr1118Cys
  • NP_579890.1:p.Tyr1118Cys
  • NC_000004.11:g.1962859A>G
Protein change:
Y1118C
Links:
dbSNP: rs2108976771
NCBI 1000 Genomes Browser:
rs2108976771
Molecular consequence:
  • NM_001042424.3:c.3353A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133330.3:c.3353A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133331.3:c.3353A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133335.4:c.3353A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rauch-Steindl syndrome (RAUST)
Identifiers:
MONDO: MONDO:0859219; MedGen: C5562061; OMIM: 619695

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002517343Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002517343.2

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

Last Updated: May 7, 2024