rs36212726
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_152644.3(FAM24B):c.-178+154A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.023 in 152,324 control chromosomes in the GnomAD database, including 50 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 0.023 ( 50 hom., cov: 32)
Consequence
FAM24B
NM_152644.3 intron
NM_152644.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.56
Genes affected
FAM24B (HGNC:23475): (family with sequence similarity 24 member B) Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.8).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.023 (3508/152324) while in subpopulation NFE AF= 0.0275 (1869/68028). AF 95% confidence interval is 0.0264. There are 50 homozygotes in gnomad4. There are 1643 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 50 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM24B | NM_152644.3 | c.-178+154A>G | intron_variant | ENST00000368898.8 | |||
FAM24B-CUZD1 | NR_037915.1 | n.157+154A>G | intron_variant, non_coding_transcript_variant | ||||
FAM24B | NM_001204364.1 | c.-148+154A>G | intron_variant | ||||
FAM24B | NR_037911.1 | n.157+154A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM24B | ENST00000368898.8 | c.-178+154A>G | intron_variant | 1 | NM_152644.3 | P1 | |||
FAM24B | ENST00000368896.1 | c.-148+154A>G | intron_variant | 2 | P1 | ||||
FAM24B | ENST00000462859.5 | n.157+154A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
FAM24B | ENST00000489000.1 | n.97+154A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0230 AC: 3507AN: 152206Hom.: 50 Cov.: 32
GnomAD3 genomes
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0230 AC: 3508AN: 152324Hom.: 50 Cov.: 32 AF XY: 0.0221 AC XY: 1643AN XY: 74492
GnomAD4 genome
?
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3508
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32
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1643
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74492
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43
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at