19-4542981-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000586965.1(SEMA6B):c.1967G>A(p.Arg656His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000644 in 698,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000586965.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152104Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000587 AC: 8AN: 136218Hom.: 0 AF XY: 0.0000541 AC XY: 4AN XY: 73942
GnomAD4 exome AF: 0.0000659 AC: 36AN: 546638Hom.: 0 Cov.: 0 AF XY: 0.0000473 AC XY: 14AN XY: 295748
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152104Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74292
ClinVar
Submissions by phenotype
not provided Benign:1
SEMA6B: BS1 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at