X-110144845-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_032227.4(TMEM164):c.555C>T(p.Tyr185Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000335 in 1,206,594 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 111 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_032227.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000206 AC: 23AN: 111507Hom.: 0 Cov.: 22 AF XY: 0.0000891 AC XY: 3AN XY: 33667
GnomAD3 exomes AF: 0.000115 AC: 21AN: 181940Hom.: 0 AF XY: 0.000105 AC XY: 7AN XY: 66504
GnomAD4 exome AF: 0.000348 AC: 381AN: 1095035Hom.: 0 Cov.: 28 AF XY: 0.000300 AC XY: 108AN XY: 360571
GnomAD4 genome AF: 0.000206 AC: 23AN: 111559Hom.: 0 Cov.: 22 AF XY: 0.0000889 AC XY: 3AN XY: 33729
ClinVar
Submissions by phenotype
not provided Benign:1
TMEM164: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at