NM_032326.4:c.450T>C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_032326.4(TMEM175):āc.450T>Cā(p.Ile150Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.601 in 1,601,740 control chromosomes in the GnomAD database, including 291,699 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_032326.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.621 AC: 92118AN: 148352Hom.: 28932 Cov.: 27
GnomAD3 exomes AF: 0.591 AC: 146790AN: 248396Hom.: 44546 AF XY: 0.596 AC XY: 80116AN XY: 134480
GnomAD4 exome AF: 0.599 AC: 870649AN: 1453282Hom.: 262741 Cov.: 47 AF XY: 0.601 AC XY: 434329AN XY: 723216
GnomAD4 genome AF: 0.621 AC: 92181AN: 148458Hom.: 28958 Cov.: 27 AF XY: 0.614 AC XY: 44423AN XY: 72294
ClinVar
Submissions by phenotype
TMEM175-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at