rs4923705
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000650498.1(ENSG00000259639):n.200-26635C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.673 in 152,074 control chromosomes in the GnomAD database, including 35,569 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000650498.1 | n.200-26635C>T | intron_variant, non_coding_transcript_variant | ||||||||
LINC02853 | ENST00000668741.1 | n.462+25389G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000561394.1 | n.200-26635C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.673 AC: 102291AN: 151954Hom.: 35573 Cov.: 32
GnomAD4 genome AF: 0.673 AC: 102313AN: 152074Hom.: 35569 Cov.: 32 AF XY: 0.678 AC XY: 50370AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at