rs1135961
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP7
The NM_002792.4(PSMA7):c.486T>G(p.Gly162=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000745 in 1,611,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G162G) has been classified as Benign.
Frequency
Consequence
NM_002792.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PSMA7 | NM_002792.4 | c.486T>G | p.Gly162= | synonymous_variant | 5/7 | ENST00000370873.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PSMA7 | ENST00000370873.9 | c.486T>G | p.Gly162= | synonymous_variant | 5/7 | 1 | NM_002792.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248630Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134386
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1459008Hom.: 0 Cov.: 53 AF XY: 0.00000689 AC XY: 5AN XY: 725732
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 35 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at