chr6-26409554-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007048.6(BTN3A1):c.737A>G(p.Gln246Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000946 in 1,613,742 control chromosomes in the GnomAD database, including 1 homozygotes. 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_007048.6 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 |
---|---|---|---|---|---|---|---|
BTN3A1 | NM_007048.6 | c.737A>G | p.Gln246Arg | missense_variant | 5/10 | ENST00000289361.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTN3A1 | ENST00000289361.11 | c.737A>G | p.Gln246Arg | missense_variant | 5/10 | 1 | NM_007048.6 | P1 | |
ENST00000707189.1 | n.1000-143633A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000707191.1 | n.1001-123151A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000553 AC: 84AN: 151844Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000566 AC: 142AN: 251074Hom.: 0 AF XY: 0.000611 AC XY: 83AN XY: 135818
GnomAD4 exome AF: 0.000986 AC: 1442AN: 1461780Hom.: 1 Cov.: 32 AF XY: 0.000919 AC XY: 668AN XY: 727192
GnomAD4 genome ? AF: 0.000553 AC: 84AN: 151962Hom.: 0 Cov.: 31 AF XY: 0.000390 AC XY: 29AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2021 | The c.737A>G (p.Q246R) alteration is located in exon 5 (coding exon 4) of the BTN3A1 gene. This alteration results from a A to G substitution at nucleotide position 737, causing the glutamine (Q) at amino acid position 246 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