chr6-26501671-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001732.3(BTN1A1):c.161C>G(p.Pro54Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000694 in 1,613,904 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 (★).
Frequency
Consequence
NM_001732.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTN1A1 | ENST00000684113.1 | c.161C>G | p.Pro54Arg | missense_variant | Exon 3 of 8 | NM_001732.3 | ENSP00000507193.1 | |||
BTN1A1 | ENST00000244513.10 | c.161C>G | p.Pro54Arg | missense_variant | Exon 2 of 7 | 1 | ENSP00000244513.6 | |||
ENSG00000291336 | ENST00000707189.1 | n.1000-51516C>G | intron_variant | Intron 1 of 1 | ||||||
ENSG00000291338 | ENST00000707191.1 | n.1001-31034C>G | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000640 AC: 16AN: 249808Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135412
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461704Hom.: 0 Cov.: 33 AF XY: 0.0000330 AC XY: 24AN XY: 727170
GnomAD4 genome AF: 0.000309 AC: 47AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000323 AC XY: 24AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.161C>G (p.P54R) alteration is located in exon 2 (coding exon 2) of the BTN1A1 gene. This alteration results from a C to G substitution at nucleotide position 161, causing the proline (P) at amino acid position 54 to be replaced by an arginine (R). 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