rs7770731
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000414740.2(ENSG00000229646):n.61-990A>G 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 0.281 in 152,110 control chromosomes in the GnomAD database, including 7,233 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.224-990A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_001743992.2 | n.362-990A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_007059472.1 | n.284-990A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_926516.3 | n.187-990A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000414740.2 | n.61-990A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.281 AC: 42679AN: 151992Hom.: 7219 Cov.: 32
GnomAD4 genome AF: 0.281 AC: 42732AN: 152110Hom.: 7233 Cov.: 32 AF XY: 0.280 AC XY: 20816AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at