6-33134085-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000783029.1(ENSG00000301948):n.725C>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 0.0359 in 152,196 control chromosomes in the GnomAD database, including 169 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
ENST00000783029.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105375021 | NR_190905.1 | n.487C>T | non_coding_transcript_exon_variant | Exon 3 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000301948 | ENST00000783029.1 | n.725C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | ||||||
ENSG00000301948 | ENST00000783030.1 | n.653C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | ||||||
ENSG00000301948 | ENST00000783031.1 | n.725C>T | non_coding_transcript_exon_variant | Exon 3 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0359 AC: 5460AN: 152078Hom.: 170 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.0359 AC: 5463AN: 152196Hom.: 169 Cov.: 32 AF XY: 0.0351 AC XY: 2612AN XY: 74414 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at