17-10729821-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004313.3(TMEM220):c.31G>A(p.Gly11Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000523 in 1,396,260 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004313.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151836Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000182 AC: 1AN: 54866Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 30104
GnomAD4 exome AF: 0.0000538 AC: 67AN: 1244424Hom.: 0 Cov.: 29 AF XY: 0.0000530 AC XY: 32AN XY: 603944
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151836Hom.: 0 Cov.: 34 AF XY: 0.0000270 AC XY: 2AN XY: 74188
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.31G>A (p.G11R) alteration is located in exon 1 (coding exon 1) of the TMEM220 gene. This alteration results from a G to A substitution at nucleotide position 31, causing the glycine (G) at amino acid position 11 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at