chr19-17436748-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001190844.2(TMEM221):c.586G>A(p.Ala196Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000222 in 1,523,566 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001190844.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM221 | NM_001190844.2 | c.586G>A | p.Ala196Thr | missense_variant | 3/3 | ENST00000341130.6 | |
TMEM221 | XM_011527603.3 | c.586G>A | p.Ala196Thr | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM221 | ENST00000341130.6 | c.586G>A | p.Ala196Thr | missense_variant | 3/3 | 2 | NM_001190844.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000313 AC: 4AN: 127740Hom.: 0 AF XY: 0.0000432 AC XY: 3AN XY: 69436
GnomAD4 exome AF: 0.000235 AC: 322AN: 1371350Hom.: 0 Cov.: 36 AF XY: 0.000230 AC XY: 155AN XY: 674898
GnomAD4 genome AF: 0.000105 AC: 16AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at