3-47062371-GTTTTTTT-GTTTTTTTTTTT
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_014159.7(SETD2):c.6110-29_6110-26dupAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 0.0000016 ( 0 hom. )
Consequence
SETD2
NM_014159.7 intron
NM_014159.7 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.577
Genes affected
SETD2 (HGNC:18420): (SET domain containing 2, histone lysine methyltransferase) Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 0.00000164 AC: 2AN: 1219836Hom.: 0 Cov.: 0 AF XY: 0.00000165 AC XY: 1AN XY: 604936
GnomAD4 exome
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2
AN:
1219836
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0
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AC XY:
1
AN XY:
604936
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GnomAD4 genome Cov.: 0
GnomAD4 genome
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0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BranchPoint Hunter
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.