20-50876068-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_017843.4(BCAS4):c.561C>T(p.Ser187Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00068 in 454,578 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S187S) has been classified as Likely benign.
Frequency
Consequence
NM_017843.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCAS4 | ENST00000371608.8 | c.400-418C>T | intron_variant | Intron 4 of 4 | 1 | NM_198799.4 | ENSP00000360669.3 |
Frequencies
GnomAD3 genomes AF: 0.000460 AC: 70AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00115 AC: 146AN: 127166Hom.: 2 AF XY: 0.00121 AC XY: 84AN XY: 69622
GnomAD4 exome AF: 0.000790 AC: 239AN: 302440Hom.: 3 Cov.: 0 AF XY: 0.000784 AC XY: 135AN XY: 172258
GnomAD4 genome AF: 0.000460 AC: 70AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.000431 AC XY: 32AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at