11-118894372-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001716.5(CXCR5):c.828C>T(p.His276=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00167 in 1,614,202 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0086 ( 13 hom., cov: 32)
Exomes 𝑓: 0.00095 ( 15 hom. )
Consequence
CXCR5
NM_001716.5 synonymous
NM_001716.5 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.0440
Genes affected
CXCR5 (HGNC:1060): (C-X-C motif chemokine receptor 5) This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
BCL9L (HGNC:23688): (BCL9 like) Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -15 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.63).
BP6
?
Variant 11-118894372-C-T is Benign according to our data. Variant chr11-118894372-C-T is described in ClinVar as [Benign]. Clinvar id is 784217.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=0.044 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00863 (1314/152332) while in subpopulation AFR AF= 0.0298 (1237/41568). AF 95% confidence interval is 0.0284. There are 13 homozygotes in gnomad4. There are 601 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd at 1307 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CXCR5 | NM_001716.5 | c.828C>T | p.His276= | synonymous_variant | 2/2 | ENST00000292174.5 | |
CXCR5 | NM_032966.2 | c.693C>T | p.His231= | synonymous_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CXCR5 | ENST00000292174.5 | c.828C>T | p.His276= | synonymous_variant | 2/2 | 1 | NM_001716.5 | P1 | |
BCL9L | ENST00000334801.7 | c.*4043G>A | 3_prime_UTR_variant | 8/8 | 1 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00859 AC: 1307AN: 152214Hom.: 13 Cov.: 32
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GnomAD3 exomes AF: 0.00214 AC: 538AN: 251020Hom.: 1 AF XY: 0.00144 AC XY: 196AN XY: 135698
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GnomAD4 exome AF: 0.000948 AC: 1386AN: 1461870Hom.: 15 Cov.: 31 AF XY: 0.000777 AC XY: 565AN XY: 727240
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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 | Invitae | Jun 29, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
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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