17-61037924-A-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBS1_Supporting
The NM_017679.5(BCAS3):c.1798A>G(p.Ile600Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000818 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017679.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249498Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135352
GnomAD4 exome AF: 0.0000862 AC: 126AN: 1461852Hom.: 0 Cov.: 30 AF XY: 0.0000825 AC XY: 60AN XY: 727234
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74286
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1843A>G (p.I615V) alteration is located in exon 19 (coding exon 18) of the BCAS3 gene. This alteration results from a A to G substitution at nucleotide position 1843, causing the isoleucine (I) at amino acid position 615 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at