20-53953448-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366298.2(BCAS1):c.1799G>A(p.Gly600Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000787 in 1,613,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366298.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCAS1 | NM_001366298.2 | c.1799G>A | p.Gly600Asp | missense_variant | Exon 12 of 13 | ENST00000688948.1 | NP_001353227.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCAS1 | ENST00000688948.1 | c.1799G>A | p.Gly600Asp | missense_variant | Exon 12 of 13 | NM_001366298.2 | ENSP00000508731.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000719 AC: 18AN: 250198Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135332
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.0000756 AC XY: 55AN XY: 727190
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1664G>A (p.G555D) alteration is located in exon 11 (coding exon 10) of the BCAS1 gene. This alteration results from a G to A substitution at nucleotide position 1664, causing the glycine (G) at amino acid position 555 to be replaced by an aspartic acid (D). 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