6-160348391-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_021977.4(SLC22A3):c.-29G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.469 in 1,429,486 control chromosomes in the GnomAD database, including 159,083 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_021977.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.489 AC: 74007AN: 151460Hom.: 18309 Cov.: 34
GnomAD3 exomes AF: 0.468 AC: 43965AN: 93916Hom.: 10421 AF XY: 0.472 AC XY: 25237AN XY: 53460
GnomAD4 exome AF: 0.467 AC: 596530AN: 1277916Hom.: 140740 Cov.: 40 AF XY: 0.466 AC XY: 291202AN XY: 625548
GnomAD4 genome AF: 0.489 AC: 74093AN: 151570Hom.: 18343 Cov.: 34 AF XY: 0.487 AC XY: 36062AN XY: 74078
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is associated with the following publications: (PMID: 22231567) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at