NM_032553.3:c.623C>T
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_032553.3(GPR174):c.623C>T(p.Thr208Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000091 in 1,209,202 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. 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 (★).
Frequency
Consequence
NM_032553.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_032553.3. You can select a different transcript below to see updated ACMG assignments.
Frequencies
GnomAD3 genomes AF: 0.0000180 AC: 2AN: 111216Hom.: 0 Cov.: 22 show subpopulations
GnomAD2 exomes AF: 0.0000330 AC: 6AN: 181974 AF XY: 0.0000597 show subpopulations
GnomAD4 exome AF: 0.00000820 AC: 9AN: 1097986Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 3AN XY: 363392 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000180 AC: 2AN: 111216Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33430 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at