NM_032326.4:c.194A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_032326.4(TMEM175):āc.194A>Cā(p.Gln65Pro) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0918 in 1,611,220 control chromosomes in the GnomAD database, including 7,834 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_032326.4 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0679 AC: 10336AN: 152196Hom.: 516 Cov.: 32
GnomAD3 exomes AF: 0.0703 AC: 17645AN: 251040Hom.: 891 AF XY: 0.0714 AC XY: 9684AN XY: 135698
GnomAD4 exome AF: 0.0943 AC: 137619AN: 1458906Hom.: 7318 Cov.: 30 AF XY: 0.0927 AC XY: 67282AN XY: 726034
GnomAD4 genome AF: 0.0679 AC: 10336AN: 152314Hom.: 516 Cov.: 32 AF XY: 0.0644 AC XY: 4797AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:2
- -
This variant is associated with the following publications: (PMID: 31658403, 30389748) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at