5-148063797-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000521206.5(SPINK5):c.-182-66G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0427 in 567,076 control chromosomes in the GnomAD database, including 878 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000521206.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Frequencies
GnomAD3 genomes AF: 0.0338 AC: 5138AN: 151980Hom.: 149 Cov.: 32
GnomAD4 exome AF: 0.0460 AC: 19072AN: 414978Hom.: 729 AF XY: 0.0459 AC XY: 10087AN XY: 219976
GnomAD4 genome AF: 0.0338 AC: 5144AN: 152098Hom.: 149 Cov.: 32 AF XY: 0.0367 AC XY: 2725AN XY: 74328
ClinVar
Submissions by phenotype
Ichthyosis linearis circumflexa Benign:1
- -
not provided Benign:1
This variant is associated with the following publications: (PMID: 19534795) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at