16-51137019-AGGGGC-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_002968.3(SALL1):c.*88_*92del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000741 in 933,008 control chromosomes in the GnomAD database, including 4 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.0081 ( 1 hom., cov: 0)
Exomes 𝑓: 0.00032 ( 3 hom. )
Consequence
SALL1
NM_002968.3 3_prime_UTR
NM_002968.3 3_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.65
Genes affected
SALL1 (HGNC:10524): (spalt like transcription factor 1) The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP6
?
Variant 16-51137019-AGGGGC-A is Benign according to our data. Variant chr16-51137019-AGGGGC-A is described in ClinVar as [Likely_benign]. Clinvar id is 319593.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr16-51137019-AGGGGC-A is described in Lovd as [Benign].
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00814 (408/50116) while in subpopulation AFR AF= 0.0313 (388/12396). AF 95% confidence interval is 0.0287. There are 1 homozygotes in gnomad4. There are 200 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
?
High AC in GnomAd at 407 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SALL1 | NM_002968.3 | c.*88_*92del | 3_prime_UTR_variant | 3/3 | ENST00000251020.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SALL1 | ENST00000251020.9 | c.*88_*92del | 3_prime_UTR_variant | 3/3 | 1 | NM_002968.3 | P2 | ||
SALL1 | ENST00000440970.6 | c.*88_*92del | 3_prime_UTR_variant | 4/4 | 5 | P2 | |||
SALL1 | ENST00000685868.1 | c.*88_*92del | 3_prime_UTR_variant | 4/4 | P2 | ||||
SALL1 | ENST00000566102.1 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00813 AC: 407AN: 50078Hom.: 1 Cov.: 0
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GnomAD4 exome AF: 0.000321 AC: 283AN: 882892Hom.: 3 AF XY: 0.000302 AC XY: 137AN XY: 454038
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ClinVar
Significance: Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 31, 2019 | - - |
Townes-Brocks syndrome 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at