rs8096037
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001378183.1(PIEZO2):āc.4290T>Gā(p.Leu1430=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000023 in 1,524,994 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. L1430L) has been classified as Benign.
Frequency
Consequence
NM_001378183.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIEZO2 | NM_001378183.1 | c.4290T>G | p.Leu1430= | synonymous_variant | 30/56 | ENST00000674853.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIEZO2 | ENST00000674853.1 | c.4290T>G | p.Leu1430= | synonymous_variant | 30/56 | NM_001378183.1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000539 AC: 7AN: 129772Hom.: 0 AF XY: 0.0000578 AC XY: 4AN XY: 69170
GnomAD4 exome AF: 0.0000240 AC: 33AN: 1372966Hom.: 0 Cov.: 37 AF XY: 0.0000355 AC XY: 24AN XY: 676908
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152028Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74238
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at