rs9559818
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001846.4(COL4A2):c.2426-124G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.449 in 986,188 control chromosomes in the GnomAD database, including 100,125 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.43 ( 13995 hom., cov: 33)
Exomes 𝑓: 0.45 ( 86130 hom. )
Consequence
COL4A2
NM_001846.4 intron
NM_001846.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.243
Genes affected
COL4A2 (HGNC:2203): (collagen type IV alpha 2 chain) This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BP6
?
Variant 13-110477879-G-A is Benign according to our data. Variant chr13-110477879-G-A is described in ClinVar as [Benign]. Clinvar id is 1260163.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.449 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL4A2 | NM_001846.4 | c.2426-124G>A | intron_variant | ENST00000360467.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL4A2 | ENST00000360467.7 | c.2426-124G>A | intron_variant | 5 | NM_001846.4 | P1 | |||
COL4A2 | ENST00000650225.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.427 AC: 64880AN: 151950Hom.: 13984 Cov.: 33
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GnomAD4 exome AF: 0.453 AC: 378135AN: 834122Hom.: 86130 Cov.: 11 AF XY: 0.455 AC XY: 185207AN XY: 407112
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GnomAD4 genome ? AF: 0.427 AC: 64929AN: 152066Hom.: 13995 Cov.: 33 AF XY: 0.426 AC XY: 31689AN XY: 74340
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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 | Jul 09, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at