8-38210010-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004874.4(BAG4):c.891T>G(p.Asp297Glu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000104 in 1,611,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004874.4 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAG4 | NM_004874.4 | c.891T>G | p.Asp297Glu | missense_variant, splice_region_variant | 5/5 | ENST00000287322.5 | |
BAG4 | NM_001204878.2 | c.783T>G | p.Asp261Glu | missense_variant, splice_region_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAG4 | ENST00000287322.5 | c.891T>G | p.Asp297Glu | missense_variant, splice_region_variant | 5/5 | 1 | NM_004874.4 | P1 | |
BAG4 | ENST00000432471.6 | c.783T>G | p.Asp261Glu | missense_variant, splice_region_variant | 4/4 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000196 AC: 49AN: 249452Hom.: 0 AF XY: 0.000267 AC XY: 36AN XY: 134718
GnomAD4 exome AF: 0.000108 AC: 157AN: 1458770Hom.: 0 Cov.: 31 AF XY: 0.000128 AC XY: 93AN XY: 725200
GnomAD4 genome ? AF: 0.0000656 AC: 10AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.891T>G (p.D297E) alteration is located in exon 5 (coding exon 5) of the BAG4 gene. This alteration results from a T to G substitution at nucleotide position 891, causing the aspartic acid (D) at amino acid position 297 to be replaced by a glutamic acid (E). 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