rs7552206
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001736964.3(LYPLAL1):n.28055-7250C>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 0.342 in 151,960 control chromosomes in the GnomAD database, including 9,789 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_001736964.3 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 |
---|---|---|---|---|---|---|---|
LYPLAL1 | XR_001736964.3 | n.28055-7250C>A | intron_variant, non_coding_transcript_variant | ||||
LYPLAL1 | XR_001736967.3 | n.1056+78248C>A | intron_variant, non_coding_transcript_variant | ||||
LYPLAL1 | XR_001736968.3 | n.1009-7250C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.342 AC: 51965AN: 151844Hom.: 9763 Cov.: 31
GnomAD4 genome ? AF: 0.342 AC: 52032AN: 151960Hom.: 9789 Cov.: 31 AF XY: 0.350 AC XY: 26025AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at