rs35092028
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001293298.2(CEMIP):c.2589C>T(p.Ser863=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0217 in 1,614,100 control chromosomes in the GnomAD database, including 418 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.024 ( 52 hom., cov: 32)
Exomes 𝑓: 0.022 ( 366 hom. )
Consequence
CEMIP
NM_001293298.2 synonymous
NM_001293298.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -4.91
Genes affected
CEMIP (HGNC:29213): (cell migration inducing hyaluronidase 1) Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of transport. Located in clathrin-coated endocytic vesicle; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -21 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant 15-80929151-C-T is Benign according to our data. Variant chr15-80929151-C-T is described in ClinVar as [Benign]. Clinvar id is 585661.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=-4.91 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.024 (3647/152222) while in subpopulation AFR AF= 0.0281 (1169/41542). AF 95% confidence interval is 0.0268. There are 52 homozygotes in gnomad4. There are 1651 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 52 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEMIP | NM_001293298.2 | c.2589C>T | p.Ser863= | synonymous_variant | 21/30 | ENST00000394685.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEMIP | ENST00000394685.8 | c.2589C>T | p.Ser863= | synonymous_variant | 21/30 | 1 | NM_001293298.2 | P1 | |
CEMIP | ENST00000220244.7 | c.2589C>T | p.Ser863= | synonymous_variant | 20/29 | 1 | P1 | ||
CEMIP | ENST00000356249.9 | c.2589C>T | p.Ser863= | synonymous_variant | 21/30 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0240 AC: 3643AN: 152104Hom.: 52 Cov.: 32
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GnomAD3 exomes AF: 0.0195 AC: 4909AN: 251488Hom.: 78 AF XY: 0.0194 AC XY: 2643AN XY: 135918
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GnomAD4 exome AF: 0.0215 AC: 31451AN: 1461878Hom.: 366 Cov.: 32 AF XY: 0.0211 AC XY: 15371AN XY: 727242
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GnomAD4 genome ? AF: 0.0240 AC: 3647AN: 152222Hom.: 52 Cov.: 32 AF XY: 0.0222 AC XY: 1651AN XY: 74416
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Feb 03, 2020 | - - |
CEMIP-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 16, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
Cadd
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Dann
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RBP_binding_hub_radar
RBP_regulation_power_radar
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