rs28362678
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001304561.2(BTNL2):c.1136C>T(p.Pro379Leu) variant causes a missense change. The variant allele was found at a frequency of 0.153 in 1,610,580 control chromosomes in the GnomAD database, including 20,132 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001304561.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.151 AC: 22977AN: 151924Hom.: 1814 Cov.: 32
GnomAD3 exomes AF: 0.153 AC: 38173AN: 249352Hom.: 3243 AF XY: 0.154 AC XY: 20761AN XY: 134770
GnomAD4 exome AF: 0.153 AC: 223713AN: 1458538Hom.: 18318 Cov.: 33 AF XY: 0.154 AC XY: 111459AN XY: 725386
GnomAD4 genome AF: 0.151 AC: 22977AN: 152042Hom.: 1814 Cov.: 32 AF XY: 0.157 AC XY: 11642AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at