rs767590070
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_080751.3(TMC2):c.55C>A(p.Arg19Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000218 in 1,603,660 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_080751.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000259 AC: 6AN: 231510Hom.: 0 AF XY: 0.0000401 AC XY: 5AN XY: 124658
GnomAD4 exome AF: 0.00000964 AC: 14AN: 1451624Hom.: 0 Cov.: 31 AF XY: 0.0000125 AC XY: 9AN XY: 720872
GnomAD4 genome AF: 0.000138 AC: 21AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at