rs6614608
Positions:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The variant allele was found at a frequency of 0.00316 in 112,098 control chromosomes in the GnomAD database, including 3 homozygotes. There are 98 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 0.0032 ( 3 hom., 98 hem., cov: 23)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.776
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BS2
?
High Homozygotes in GnomAd4 at 3 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.00314 AC: 352AN: 112041Hom.: 3 Cov.: 23 AF XY: 0.00284 AC XY: 97AN XY: 34197
GnomAD3 genomes
?
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352
AN:
112041
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Cov.:
23
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AC XY:
97
AN XY:
34197
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00316 AC: 354AN: 112098Hom.: 3 Cov.: 23 AF XY: 0.00286 AC XY: 98AN XY: 34264
GnomAD4 genome
?
AF:
AC:
354
AN:
112098
Hom.:
Cov.:
23
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AC XY:
98
AN XY:
34264
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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