rs7453655
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000691159.1(ENSG00000230960):n.357+8406C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. 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 0.089 ( 536 hom., cov: 20)
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.983
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=-0.96).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.105 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000691159.1 | n.357+8406C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000701993.1 | n.382+8337C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0886 AC: 7673AN: 86598Hom.: 534 Cov.: 20
GnomAD3 genomes
?
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20
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0886 AC: 7678AN: 86658Hom.: 536 Cov.: 20 AF XY: 0.0875 AC XY: 3659AN XY: 41834
GnomAD4 genome
?
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AC:
7678
AN:
86658
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Cov.:
20
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3659
AN XY:
41834
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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