6-31640444-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001387994.1(BAG6):c.3079C>T(p.Arg1027Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000428 in 1,613,584 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 (★).
Frequency
Consequence
NM_001387994.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BAG6 | NM_001387994.1 | c.3079C>T | p.Arg1027Trp | missense_variant | Exon 23 of 26 | ENST00000676615.2 | NP_001374923.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000363 AC: 9AN: 247782Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134732
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461398Hom.: 0 Cov.: 35 AF XY: 0.0000385 AC XY: 28AN XY: 727012
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2989C>T (p.R997W) alteration is located in exon 22 (coding exon 21) of the BAG6 gene. This alteration results from a C to T substitution at nucleotide position 2989, causing the arginine (R) at amino acid position 997 to be replaced by a tryptophan (W). 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