chr6-26383878-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_006995.5(BTN2A2):c.57G>A(p.Leu19Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0121 in 1,613,780 control chromosomes in the GnomAD database, including 159 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_006995.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTN2A2 | NM_006995.5 | c.57G>A | p.Leu19Leu | synonymous_variant | Exon 2 of 8 | ENST00000356709.9 | NP_008926.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0101 AC: 1533AN: 152002Hom.: 14 Cov.: 31
GnomAD3 exomes AF: 0.0114 AC: 2848AN: 249958Hom.: 29 AF XY: 0.0122 AC XY: 1649AN XY: 135064
GnomAD4 exome AF: 0.0123 AC: 18026AN: 1461660Hom.: 146 Cov.: 31 AF XY: 0.0126 AC XY: 9177AN XY: 727154
GnomAD4 genome AF: 0.0101 AC: 1531AN: 152120Hom.: 13 Cov.: 31 AF XY: 0.00987 AC XY: 734AN XY: 74380
ClinVar
Submissions by phenotype
BTN2A2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at