rs770589339
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_015156.4(RCOR1):c.82_90delGCCGCCGCC(p.Ala28_Ala30del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000274 in 1,166,112 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000041 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000026 ( 0 hom. )
Consequence
RCOR1
NM_015156.4 conservative_inframe_deletion
NM_015156.4 conservative_inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.51
Genes affected
RCOR1 (HGNC:17441): (REST corepressor 1) This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
BP3
Nonframeshift variant in repetitive region in NM_015156.4
BS2
High AC in GnomAd4 at 6 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RCOR1 | NM_015156.4 | c.82_90delGCCGCCGCC | p.Ala28_Ala30del | conservative_inframe_deletion | Exon 1 of 12 | ENST00000262241.7 | NP_055971.2 | |
RCOR1 | XM_047431148.1 | c.82_90delGCCGCCGCC | p.Ala28_Ala30del | conservative_inframe_deletion | Exon 1 of 10 | XP_047287104.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000409 AC: 6AN: 146734Hom.: 0 Cov.: 32
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GnomAD4 exome AF: 0.0000255 AC: 26AN: 1019268Hom.: 0 AF XY: 0.0000264 AC XY: 13AN XY: 491696
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GnomAD4 genome AF: 0.0000409 AC: 6AN: 146844Hom.: 0 Cov.: 32 AF XY: 0.0000279 AC XY: 2AN XY: 71626
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at