chr19-7932691-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP3BP4_ModerateBS2
The NM_006351.4(TIMM44):c.923C>A(p.Pro308Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00429 in 1,614,140 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_006351.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00294 AC: 448AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00273 AC: 687AN: 251354Hom.: 4 AF XY: 0.00270 AC XY: 367AN XY: 135878
GnomAD4 exome AF: 0.00443 AC: 6479AN: 1461824Hom.: 13 Cov.: 31 AF XY: 0.00429 AC XY: 3120AN XY: 727220
GnomAD4 genome AF: 0.00294 AC: 448AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.00266 AC XY: 198AN XY: 74478
ClinVar
Submissions by phenotype
not provided Other:1
Variant interpretted as Likely pathogenic and reported on 04-21-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at