rs356229
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_007058466.1(LOC124900602):n.3942C>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,932 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
XR_007058466.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC124900602 | XR_007058466.1 | n.3942C>A | non_coding_transcript_exon_variant | 1/3 | |||
LOC124900602 | XR_001741764.2 | n.3942C>A | non_coding_transcript_exon_variant | 1/3 | |||
LOC124900602 | XR_007058465.1 | n.3942C>A | non_coding_transcript_exon_variant | 1/2 | |||
LOC124900602 | XR_938983.2 | n.3942C>A | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000659878.1 | n.480-40938C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000673949.1 | n.305+16828G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151932Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151932Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74156
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at