rs706393
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000641302.1(ENSG00000260971):n.323-1729A>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 0.0707 in 152,266 control chromosomes in the GnomAD database, including 1,165 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000641302.1 | n.323-1729A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000641348.1 | n.303-1729A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000641349.1 | n.294-1729A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0705 AC: 10720AN: 152146Hom.: 1162 Cov.: 32
GnomAD4 genome ? AF: 0.0707 AC: 10759AN: 152266Hom.: 1165 Cov.: 32 AF XY: 0.0678 AC XY: 5052AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at