rs7578624
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM4BA1
The XM_047446882.1(LOC105373989):c.264C>G(p.Tyr88Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0967 in 151,760 control chromosomes in the GnomAD database, including 1,199 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.097 ( 1199 hom., cov: 31)
Consequence
LOC105373989
XM_047446882.1 stop_gained
XM_047446882.1 stop_gained
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.08
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
PM4
?
Stoplost variant in XM_047446882.1 Downstream stopcodon found after 424 codons.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.205 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105373989 | XM_047446882.1 | c.264C>G | p.Tyr88Ter | stop_gained | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0967 AC: 14663AN: 151644Hom.: 1195 Cov.: 31
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0967 AC: 14679AN: 151760Hom.: 1199 Cov.: 31 AF XY: 0.0979 AC XY: 7261AN XY: 74160
GnomAD4 genome
?
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14679
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31
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7261
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74160
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Asia WGS
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827
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at