rs6740462
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000597541.6(ENSG00000234255):n.939-53G>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 0.783 in 152,410 control chromosomes in the GnomAD database, including 47,137 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 -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105374780 | XR_007086483.1 | n.939-53G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374780 | XR_007086487.1 | n.1547-53G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374780 | XR_007086488.1 | n.1715-53G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374780 | XR_940187.4 | n.1466-53G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000597541.6 | n.939-53G>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
LINC02934 | ENST00000606978.5 | n.172+3256C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.783 AC: 118972AN: 151952Hom.: 47001 Cov.: 32
GnomAD4 exome AF: 0.721 AC: 245AN: 340Hom.: 89 AF XY: 0.757 AC XY: 168AN XY: 222
GnomAD4 genome AF: 0.783 AC: 119081AN: 152070Hom.: 47048 Cov.: 32 AF XY: 0.780 AC XY: 57950AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at