8-38207599-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004874.4(BAG4):c.466T>C(p.Tyr156His) variant causes a missense change. The variant allele was found at a frequency of 0.0000372 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y156D) has been classified as Uncertain significance.
Frequency
Consequence
NM_004874.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAG4 | NM_004874.4 | c.466T>C | p.Tyr156His | missense_variant | 3/5 | ENST00000287322.5 | |
BAG4 | NM_001204878.2 | c.358T>C | p.Tyr120His | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAG4 | ENST00000287322.5 | c.466T>C | p.Tyr156His | missense_variant | 3/5 | 1 | NM_004874.4 | P1 | |
BAG4 | ENST00000432471.6 | c.358T>C | p.Tyr120His | missense_variant | 2/4 | 1 | |||
BAG4 | ENST00000521311.1 | c.7T>C | p.Tyr3His | missense_variant | 1/2 | 2 | |||
BAG4 | ENST00000521282.1 | n.388T>C | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251446Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135890
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.0000495 AC XY: 36AN XY: 727230
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 18, 2023 | The c.466T>C (p.Y156H) alteration is located in exon 3 (coding exon 3) of the BAG4 gene. This alteration results from a T to C substitution at nucleotide position 466, causing the tyrosine (Y) at amino acid position 156 to be replaced by a histidine (H). 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