chr16-90022715-T-G
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001481.3(GAS8):c.-7T>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00776 in 1,417,528 control chromosomes in the GnomAD database, including 555 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.037 ( 329 hom., cov: 33)
Exomes 𝑓: 0.0043 ( 226 hom. )
Consequence
GAS8
NM_001481.3 5_prime_UTR
NM_001481.3 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.338
Genes affected
GAS8 (HGNC:4166): (growth arrest specific 8) This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
Variant 16-90022715-T-G is Benign according to our data. Variant chr16-90022715-T-G is described in ClinVar as [Benign]. Clinvar id is 1236662.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.121 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.-7T>G | 5_prime_UTR_variant | 1/11 | ENST00000268699.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.-7T>G | 5_prime_UTR_variant | 1/11 | 1 | NM_001481.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0366 AC: 5563AN: 151912Hom.: 329 Cov.: 33
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GnomAD3 exomes AF: 0.00489 AC: 329AN: 67332Hom.: 6 AF XY: 0.00462 AC XY: 179AN XY: 38758
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GnomAD4 exome AF: 0.00429 AC: 5432AN: 1265500Hom.: 226 Cov.: 31 AF XY: 0.00411 AC XY: 2542AN XY: 618122
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GnomAD4 genome AF: 0.0366 AC: 5568AN: 152028Hom.: 329 Cov.: 33 AF XY: 0.0353 AC XY: 2622AN XY: 74332
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
Primary ciliary dyskinesia 33 Benign:1
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 22, 2023 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 31, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at