5-181050312-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152547.5(BTNL9):c.679G>A(p.Val227Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000328 in 1,614,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152547.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BTNL9 | NM_152547.5 | c.679G>A | p.Val227Ile | missense_variant | 4/11 | ENST00000327705.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTNL9 | ENST00000327705.14 | c.679G>A | p.Val227Ile | missense_variant | 4/11 | 1 | NM_152547.5 | P1 | |
BTNL9 | ENST00000376841.6 | c.679G>A | p.Val227Ile | missense_variant | 4/11 | 1 | |||
BTNL9 | ENST00000515271.1 | c.472G>A | p.Val158Ile | missense_variant | 3/5 | 2 | |||
BTNL9 | ENST00000491209.5 | c.679G>A | p.Val227Ile | missense_variant, NMD_transcript_variant | 4/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251368Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135890
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727182
GnomAD4 genome AF: 0.000151 AC: 23AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.679G>A (p.V227I) alteration is located in exon 4 (coding exon 3) of the BTNL9 gene. This alteration results from a G to A substitution at nucleotide position 679, causing the valine (V) at amino acid position 227 to be replaced by an isoleucine (I). 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