17-72121309-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_000346.4(SOX9):c.-83G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00319 in 1,285,480 control chromosomes in the GnomAD database, including 85 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.014 ( 46 hom., cov: 31)
Exomes 𝑓: 0.0017 ( 39 hom. )
Consequence
SOX9
NM_000346.4 5_prime_UTR
NM_000346.4 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.225
Genes affected
SOX9 (HGNC:11204): (SRY-box transcription factor 9) The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
BP6
?
Variant 17-72121309-G-A is Benign according to our data. Variant chr17-72121309-G-A is described in ClinVar as [Benign]. Clinvar id is 1290975.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.014 (2129/152200) while in subpopulation AFR AF= 0.0475 (1972/41550). AF 95% confidence interval is 0.0457. There are 46 homozygotes in gnomad4. There are 1021 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
?
High AC in GnomAd at 2123 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SOX9 | NM_000346.4 | c.-83G>A | 5_prime_UTR_variant | 1/3 | ENST00000245479.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SOX9 | ENST00000245479.3 | c.-83G>A | 5_prime_UTR_variant | 1/3 | 1 | NM_000346.4 | P1 | ||
SOX9-AS1 | ENST00000414600.1 | n.96+20376C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0140 AC: 2123AN: 152084Hom.: 46 Cov.: 31
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GnomAD4 exome AF: 0.00174 AC: 1974AN: 1133280Hom.: 39 Cov.: 16 AF XY: 0.00157 AC XY: 904AN XY: 574914
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
Computational scores
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BayesDel_noAF
Benign
Cadd
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at