16-88715700-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4BS1_SupportingBS2
The NM_001142864.4(PIEZO1):c.7471C>T(p.Arg2491Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000408 in 1,550,288 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001142864.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000282 AC: 43AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000301 AC: 47AN: 156138Hom.: 0 AF XY: 0.000314 AC XY: 26AN XY: 82878
GnomAD4 exome AF: 0.000422 AC: 590AN: 1398056Hom.: 1 Cov.: 35 AF XY: 0.000438 AC XY: 302AN XY: 689506
GnomAD4 genome AF: 0.000282 AC: 43AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.000309 AC XY: 23AN XY: 74372
ClinVar
Submissions by phenotype
not provided Uncertain:3Benign:1
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not specified Uncertain:1
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PIEZO1-related disorder Uncertain:1
The PIEZO1 c.7471C>T variant is predicted to result in the amino acid substitution p.Arg2491Trp. This variant has been reported in an individual with hereditary xerocytosis (Picard et al 2019. PubMed ID: 30655378). This variant is reported in 0.062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at