rs1881245
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001378454.1(ALMS1):c.647-57G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.252 in 1,349,096 control chromosomes in the GnomAD database, including 52,567 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 0.36 ( 13269 hom., cov: 31)
Exomes 𝑓: 0.24 ( 39298 hom. )
Consequence
ALMS1
NM_001378454.1 intron
NM_001378454.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.221
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 Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.682 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALMS1 | NM_001378454.1 | c.647-57G>A | intron_variant | ENST00000613296.6 | |||
ALMS1 | NM_015120.4 | c.647-57G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALMS1 | ENST00000613296.6 | c.647-57G>A | intron_variant | 1 | NM_001378454.1 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.361 AC: 54702AN: 151686Hom.: 13213 Cov.: 31
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GnomAD4 exome AF: 0.238 AC: 285528AN: 1197294Hom.: 39298 AF XY: 0.234 AC XY: 142155AN XY: 608516
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GnomAD4 genome ? AF: 0.361 AC: 54817AN: 151802Hom.: 13269 Cov.: 31 AF XY: 0.355 AC XY: 26306AN XY: 74164
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389
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3478
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