rs6924119
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000629853.2(ENSG00000234261):n.314-14446G>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 0.0994 in 152,018 control chromosomes in the GnomAD database, including 2,387 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 |
---|---|---|---|---|---|---|---|
LOC101928354 | XR_241980.4 | n.47-32670G>A | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_001743992.2 | n.47-32670G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000629853.2 | n.314-14446G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000689305.1 | n.231-14446G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0992 AC: 15063AN: 151900Hom.: 2378 Cov.: 32
GnomAD4 genome AF: 0.0994 AC: 15109AN: 152018Hom.: 2387 Cov.: 32 AF XY: 0.0954 AC XY: 7091AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at