chr6-32718326-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_001743875.3(LOC102725019):n.308C>T 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 0.00148 in 151,994 control chromosomes in the GnomAD database, including 1 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
Consequence
XR_001743875.3 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 |
---|---|---|---|---|---|---|---|
LOC102725019 | XR_001743875.3 | n.308C>T | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000448198.2 | n.143+179C>T | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000585372.2 | n.298C>T | non_coding_transcript_exon_variant | 1/2 | 3 | |||||
ENST00000621553.1 | n.120-80C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00149 AC: 226AN: 151876Hom.: 1 Cov.: 32
GnomAD4 exome Cov.: 0
GnomAD4 genome AF: 0.00148 AC: 225AN: 151994Hom.: 1 Cov.: 32 AF XY: 0.00145 AC XY: 108AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at