6-31639211-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001387994.1(BAG6):āc.3409C>Gā(p.Gln1137Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000958 in 1,566,028 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 (ā ā ).
Frequency
Consequence
NM_001387994.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BAG6 | NM_001387994.1 | c.3409C>G | p.Gln1137Glu | missense_variant | Exon 26 of 26 | ENST00000676615.2 | NP_001374923.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000159 AC: 24AN: 151218Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000188 AC: 47AN: 250114Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135318
GnomAD4 exome AF: 0.0000891 AC: 126AN: 1414810Hom.: 0 Cov.: 33 AF XY: 0.0000895 AC XY: 63AN XY: 704302
GnomAD4 genome AF: 0.000159 AC: 24AN: 151218Hom.: 0 Cov.: 31 AF XY: 0.000149 AC XY: 11AN XY: 73820
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3319C>G (p.Q1107E) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a C to G substitution at nucleotide position 3319, causing the glutamine (Q) at amino acid position 1107 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at