9-33264320-T-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004323.6(BAG1):c.355A>G(p.Ser119Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,612,146 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 (★).
Frequency
Consequence
NM_004323.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BAG1 | NM_004323.6 | c.355A>G | p.Ser119Gly | missense_variant | Exon 1 of 7 | ENST00000634734.3 | NP_004314.6 | |
BAG1 | NM_001349286.2 | c.142A>G | p.Ser48Gly | missense_variant | Exon 1 of 7 | NP_001336215.1 | ||
BAG1 | NM_001172415.2 | c.10A>G | p.Ser4Gly | missense_variant | Exon 1 of 7 | NP_001165886.1 | ||
BAG1 | NM_001349299.2 | c.-60A>G | 5_prime_UTR_variant | Exon 1 of 7 | NP_001336228.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150332Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 251322 AF XY: 0.00000736 show subpopulations
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461814Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727216 show subpopulations
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150332Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73390 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355A>G (p.S119G) alteration is located in exon 1 (coding exon 1) of the BAG1 gene. This alteration results from a A to G substitution at nucleotide position 355, causing the serine (S) at amino acid position 119 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