8-38192763-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004874.4(BAG4):āc.346A>Gā(p.Thr116Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,612,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BAG4 | NM_004874.4 | c.346A>G | p.Thr116Ala | missense_variant | 2/5 | ENST00000287322.5 | NP_004865.1 | |
BAG4 | NM_001204878.2 | c.271-14749A>G | intron_variant | NP_001191807.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BAG4 | ENST00000287322.5 | c.346A>G | p.Thr116Ala | missense_variant | 2/5 | 1 | NM_004874.4 | ENSP00000287322.4 | ||
BAG4 | ENST00000432471.6 | c.271-14749A>G | intron_variant | 1 | ENSP00000393298.2 | |||||
BAG4 | ENST00000521282.1 | n.268A>G | non_coding_transcript_exon_variant | 3/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250294Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135300
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1460282Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 726534
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 28, 2024 | The c.346A>G (p.T116A) alteration is located in exon 2 (coding exon 2) of the BAG4 gene. This alteration results from a A to G substitution at nucleotide position 346, causing the threonine (T) at amino acid position 116 to be replaced by an alanine (A). 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