rs6968865
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000643090.1(ENSG00000237773):n.306+11607T>A 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 0.535 in 152,060 control chromosomes in the GnomAD database, including 22,852 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 |
---|---|---|---|---|---|---|---|
LOC101927609 | XR_007060234.1 | n.922+11607T>A | intron_variant, non_coding_transcript_variant | ||||
LOC101927609 | XR_007060235.1 | n.786+11607T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000643090.1 | n.306+11607T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.535 AC: 81257AN: 151920Hom.: 22833 Cov.: 32
GnomAD4 exome AF: 0.455 AC: 10AN: 22Hom.: 3 Cov.: 0 AF XY: 0.800 AC XY: 8AN XY: 10
GnomAD4 genome AF: 0.535 AC: 81301AN: 152038Hom.: 22849 Cov.: 32 AF XY: 0.532 AC XY: 39507AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at