20-49983938-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005985.4(SNAI1):c.197C>T(p.Ala66Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00447 in 1,613,428 control chromosomes in the GnomAD database, including 260 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_005985.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0210 AC: 3197AN: 152108Hom.: 128 Cov.: 32
GnomAD3 exomes AF: 0.00664 AC: 1665AN: 250582Hom.: 66 AF XY: 0.00561 AC XY: 761AN XY: 135540
GnomAD4 exome AF: 0.00274 AC: 3998AN: 1461202Hom.: 132 Cov.: 32 AF XY: 0.00266 AC XY: 1933AN XY: 726978
GnomAD4 genome AF: 0.0211 AC: 3207AN: 152226Hom.: 128 Cov.: 32 AF XY: 0.0205 AC XY: 1524AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at