rs5904861
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000498161.1(FTH1P8):n.115G>T variant causes a non coding transcript exon change. The variant allele was found at a frequency of 0.0345 in 1,176,807 control chromosomes in the GnomAD database, including 631 homozygotes. There are 12,111 hemizygotes in GnomAD. 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 0.050 ( 145 hom., 1539 hem., cov: 22)
Exomes 𝑓: 0.033 ( 486 hom. 10572 hem. )
Consequence
FTH1P8
ENST00000498161.1 non_coding_transcript_exon
ENST00000498161.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 7.06
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.57).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0985 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FTH1P8 | ENST00000498161.1 | n.115G>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.0502 AC: 5621AN: 112036Hom.: 145 Cov.: 22 AF XY: 0.0449 AC XY: 1535AN XY: 34208
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GnomAD4 exome AF: 0.0329 AC: 34979AN: 1064716Hom.: 486 Cov.: 28 AF XY: 0.0309 AC XY: 10572AN XY: 342378
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GnomAD4 genome ? AF: 0.0502 AC: 5623AN: 112091Hom.: 145 Cov.: 22 AF XY: 0.0449 AC XY: 1539AN XY: 34273
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at