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NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 28, 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:
RCV001574013.2

Allele description [Variation Report for NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly)]

NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly)

Gene:
SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly)
HGVS:
  • NC_000003.12:g.47057098A>C
  • NG_032091.1:g.111880T>G
  • NM_001349370.3:c.6554T>G
  • NM_014159.7:c.6686T>GMANE SELECT
  • NP_001336299.1:p.Val2185Gly
  • NP_054878.5:p.Val2229Gly
  • NP_054878.5:p.Val2229Gly
  • LRG_775t1:c.6686T>G
  • LRG_775:g.111880T>G
  • LRG_775p1:p.Val2229Gly
  • NC_000003.11:g.47098588A>C
  • NM_014159.6:c.6686T>G
  • NR_146158.3:n.7043T>G
Protein change:
V2185G
Links:
dbSNP: rs377066147
NCBI 1000 Genomes Browser:
rs377066147
Molecular consequence:
  • NM_001349370.3:c.6554T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014159.7:c.6686T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146158.3:n.7043T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001800693Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV003845724GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 28, 2023)
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 Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800693.1

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

From GeneDx, SCV003845724.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Feb 28, 2024