2-102814902-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144632.5(TMEM182):āc.624A>Gā(p.Ile208Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000156 in 1,613,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_144632.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM182 | NM_144632.5 | c.624A>G | p.Ile208Met | missense_variant | 5/5 | ENST00000412401.3 | NP_653233.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM182 | ENST00000412401.3 | c.624A>G | p.Ile208Met | missense_variant | 5/5 | 1 | NM_144632.5 | ENSP00000394178 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151874Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251218Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135774
GnomAD4 exome AF: 0.000163 AC: 238AN: 1461698Hom.: 0 Cov.: 30 AF XY: 0.000171 AC XY: 124AN XY: 727144
GnomAD4 genome AF: 0.0000856 AC: 13AN: 151874Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74176
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2023 | The c.624A>G (p.I208M) alteration is located in exon 5 (coding exon 5) of the TMEM182 gene. This alteration results from a A to G substitution at nucleotide position 624, causing the isoleucine (I) at amino acid position 208 to be replaced by a methionine (M). 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