6-31639219-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001387994.1(BAG6):āc.3401C>Gā(p.Ser1134Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,610,698 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 ).
Frequency
Consequence
NM_001387994.1 missense
Scores
Clinical Significance
Conservation
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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.3401C>G | p.Ser1134Cys | missense_variant | Exon 26 of 26 | ENST00000676615.2 | NP_001374923.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151954Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249382Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134976
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1458744Hom.: 0 Cov.: 33 AF XY: 0.0000110 AC XY: 8AN XY: 725760
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151954Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74226
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3311C>G (p.S1104C) 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 3311, causing the serine (S) at amino acid position 1104 to be replaced by a cysteine (C). 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