rs769506340
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001142864.4(PIEZO1):c.3107G>T(p.Arg1036Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000129 in 1,548,908 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1036H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001142864.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIEZO1 | NM_001142864.4 | c.3107G>T | p.Arg1036Leu | missense_variant | 22/51 | ENST00000301015.14 | |
LOC100289580 | NR_103774.1 | n.269+347C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIEZO1 | ENST00000301015.14 | c.3107G>T | p.Arg1036Leu | missense_variant | 22/51 | 1 | NM_001142864.4 | P1 | |
ENST00000440406.2 | n.269+347C>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000662 AC: 1AN: 151066Hom.: 0 Cov.: 29
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397842Hom.: 0 Cov.: 33 AF XY: 0.00000145 AC XY: 1AN XY: 689422
GnomAD4 genome ? AF: 0.00000662 AC: 1AN: 151066Hom.: 0 Cov.: 29 AF XY: 0.0000136 AC XY: 1AN XY: 73708
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at