20-50795000-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_017843.4(BCAS4):āc.7C>Gā(p.Arg3Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000849 in 1,177,650 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017843.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCAS4 | NM_017843.4 | c.7C>G | p.Arg3Gly | missense_variant | 1/6 | NP_060313.3 | ||
BCAS4 | NM_001010974.2 | c.7C>G | p.Arg3Gly | missense_variant | 1/4 | NP_001010974.1 | ||
BCAS4 | XM_011528886.3 | c.7C>G | p.Arg3Gly | missense_variant | 1/6 | XP_011527188.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCAS4 | ENST00000358791.9 | c.7C>G | p.Arg3Gly | missense_variant | 1/6 | 1 | ENSP00000351642.5 | |||
BCAS4 | ENST00000609336.5 | c.-84C>G | upstream_gene_variant | 1 | ENSP00000477167.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.49e-7 AC: 1AN: 1177650Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 572834
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 03, 2023 | The c.7C>G (p.R3G) alteration is located in exon 1 (coding exon 1) of the BCAS4 gene. This alteration results from a C to G substitution at nucleotide position 7, causing the arginine (R) at amino acid position 3 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.