chr2-73385828-C-CCCT
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The ENST00000484298.5(ALMS1):c.-27_-25dup variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000977 in 665,138 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.00014 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000086 ( 0 hom. )
Consequence
ALMS1
ENST00000484298.5 5_prime_UTR
ENST00000484298.5 5_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.530
Genes affected
ALMS1 (HGNC:428): (ALMS1 centrosome and basal body associated protein) This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 2-73385828-C-CCCT is Benign according to our data. Variant chr2-73385828-C-CCCT is described in ClinVar as [Benign]. Clinvar id is 421812.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALMS1 | NM_015120.4 | c.-27_-25dup | 5_prime_UTR_variant | 1/23 | |||
ALMS1 | NM_001378454.1 | upstream_gene_variant | ENST00000613296.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALMS1 | ENST00000484298.5 | c.-27_-25dup | 5_prime_UTR_variant | 1/22 | 1 | A2 | |||
ALMS1 | ENST00000613296.6 | upstream_gene_variant | 1 | NM_001378454.1 | P3 | ||||
ALMS1 | ENST00000614410.4 | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 151666Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000157 AC: 11AN: 69986Hom.: 0 AF XY: 0.000240 AC XY: 9AN XY: 37562
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GnomAD4 exome AF: 0.0000857 AC: 44AN: 513370Hom.: 0 Cov.: 0 AF XY: 0.000101 AC XY: 28AN XY: 276450
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GnomAD4 genome AF: 0.000138 AC: 21AN: 151768Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74178
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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 | Dec 05, 2019 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at