chr1-222725481-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144695.4(BROX):c.506C>T(p.Ala169Val) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,611,612 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A169A) has been classified as Benign.
Frequency
Consequence
NM_144695.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249930Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135178
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1459682Hom.: 0 Cov.: 29 AF XY: 0.0000248 AC XY: 18AN XY: 726258
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74178
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.506C>T (p.A169V) alteration is located in exon 7 (coding exon 6) of the BROX gene. This alteration results from a C to T substitution at nucleotide position 506, causing the alanine (A) at amino acid position 169 to be replaced by a valine (V). 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