chr7-53035963-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182595.4(POM121L12):āc.292A>Gā(p.Arg98Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000707 in 1,612,520 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_182595.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POM121L12 | NM_182595.4 | c.292A>G | p.Arg98Gly | missense_variant | 1/1 | ENST00000408890.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POM121L12 | ENST00000408890.6 | c.292A>G | p.Arg98Gly | missense_variant | 1/1 | NM_182595.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152054Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000120 AC: 29AN: 240802Hom.: 0 AF XY: 0.000167 AC XY: 22AN XY: 131748
GnomAD4 exome AF: 0.0000664 AC: 97AN: 1460348Hom.: 0 Cov.: 86 AF XY: 0.000102 AC XY: 74AN XY: 726466
GnomAD4 genome AF: 0.000112 AC: 17AN: 152172Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2023 | The c.292A>G (p.R98G) alteration is located in exon 1 (coding exon 1) of the POM121L12 gene. This alteration results from a A to G substitution at nucleotide position 292, causing the arginine (R) at amino acid position 98 to be replaced by a glycine (G). 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