17-8189381-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017622.3(BORCS6):c.760C>G(p.Pro254Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000276 in 1,447,624 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017622.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000449 AC: 1AN: 222916Hom.: 0 AF XY: 0.00000823 AC XY: 1AN XY: 121436
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1447624Hom.: 0 Cov.: 34 AF XY: 0.00000139 AC XY: 1AN XY: 719118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.760C>G (p.P254A) alteration is located in exon 1 (coding exon 1) of the BORCS6 gene. This alteration results from a C to G substitution at nucleotide position 760, causing the proline (P) at amino acid position 254 to be replaced by an alanine (A). 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