7-107563544-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_006348.5(COG5):c.94+259A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.039 ( 56 hom., cov: 8)
Exomes 𝑓: 0.022 ( 51 hom. )
Consequence
COG5
NM_006348.5 intron
NM_006348.5 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.216
Genes affected
COG5 (HGNC:14857): (component of oligomeric golgi complex 5) The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
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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=-0.9).
BP6
?
Variant 7-107563544-T-G is Benign according to our data. Variant chr7-107563544-T-G is described in ClinVar as [Benign]. Clinvar id is 1269259.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0764 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COG5 | NM_006348.5 | c.94+259A>C | intron_variant | ENST00000297135.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COG5 | ENST00000297135.9 | c.94+259A>C | intron_variant | 1 | NM_006348.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0391 AC: 2301AN: 58774Hom.: 56 Cov.: 8
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GnomAD4 exome AF: 0.0218 AC: 4275AN: 196008Hom.: 51 Cov.: 0 AF XY: 0.0212 AC XY: 2214AN XY: 104552
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GnomAD4 genome ? AF: 0.0391 AC: 2300AN: 58836Hom.: 56 Cov.: 8 AF XY: 0.0355 AC XY: 978AN XY: 27550
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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 | Feb 13, 2020 | - - |
Computational scores
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Name
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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