rs36212407
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037915.1(FAM24B-CUZD1):n.370G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0994 in 285,780 control chromosomes in the GnomAD database, including 1,727 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 0.088 ( 806 hom., cov: 33)
Exomes 𝑓: 0.11 ( 921 hom. )
Consequence
FAM24B-CUZD1
NR_037915.1 non_coding_transcript_exon
NR_037915.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.449
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=-0.84).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.121 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM24B-CUZD1 | NR_037915.1 | n.370G>A | non_coding_transcript_exon_variant | 3/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CUZD1 | ENST00000338948.3 | c.-307G>A | 5_prime_UTR_variant, NMD_transcript_variant | 1/4 | 1 | ||||
CUZD1 | ENST00000368900.5 | c.-307G>A | 5_prime_UTR_variant, NMD_transcript_variant | 1/8 | 1 | ||||
CUZD1 | ENST00000368901.5 | c.-307G>A | 5_prime_UTR_variant, NMD_transcript_variant | 1/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0884 AC: 13460AN: 152192Hom.: 808 Cov.: 33
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GnomAD4 exome AF: 0.112 AC: 14951AN: 133470Hom.: 921 Cov.: 0 AF XY: 0.111 AC XY: 7576AN XY: 68142
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GnomAD4 genome ? AF: 0.0883 AC: 13454AN: 152310Hom.: 806 Cov.: 33 AF XY: 0.0880 AC XY: 6556AN XY: 74478
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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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