rs2295614
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001738266.2(LOC107985220):n.327+6T>A variant causes a splice donor region, intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0953 in 176,178 control chromosomes in the GnomAD database, including 1,132 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
Consequence
XR_001738266.2 splice_donor_region, intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC107985220 | XR_001738266.2 | n.327+6T>A | splice_donor_region_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0946 AC: 14378AN: 151996Hom.: 928 Cov.: 31
GnomAD4 exome AF: 0.0991 AC: 2384AN: 24064Hom.: 203 Cov.: 0 AF XY: 0.0982 AC XY: 1234AN XY: 12562
GnomAD4 genome ? AF: 0.0947 AC: 14399AN: 152114Hom.: 929 Cov.: 31 AF XY: 0.0985 AC XY: 7326AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at