8-37844824-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018310.4(BRF2):c.926G>A(p.Arg309His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018310.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
BRF2 | ENST00000220659.11 | c.926G>A | p.Arg309His | missense_variant | Exon 4 of 4 | 1 | NM_018310.4 | ENSP00000220659.6 | ||
ADGRA2 | ENST00000412232.3 | c.*2469C>T | 3_prime_UTR_variant | Exon 19 of 19 | 1 | NM_032777.10 | ENSP00000406367.2 | |||
ADGRA2 | ENST00000315215.11 | c.*2469C>T | 3_prime_UTR_variant | Exon 16 of 16 | 1 | ENSP00000323508.7 | ||||
BRF2 | ENST00000520601 | c.*406G>A | 3_prime_UTR_variant | Exon 5 of 5 | 3 | ENSP00000430107.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251360Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135894
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461856Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 727236
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.926G>A (p.R309H) alteration is located in exon 4 (coding exon 4) of the BRF2 gene. This alteration results from a G to A substitution at nucleotide position 926, causing the arginine (R) at amino acid position 309 to be replaced by a histidine (H). 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