rs11337
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001002296.2(GOLGA7):c.*1199T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.926 in 152,784 control chromosomes in the GnomAD database, including 65,637 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 0.93 ( 65386 hom., cov: 32)
Exomes 𝑓: 0.95 ( 251 hom. )
Consequence
GOLGA7
NM_001002296.2 3_prime_UTR
NM_001002296.2 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.53
Genes affected
GOLGA7 (HGNC:24876): (golgin A7) Involved in Golgi to plasma membrane protein transport; peptidyl-L-cysteine S-palmitoylation; and protein stabilization. Acts upstream of or within Golgi to plasma membrane transport. Located in Golgi membrane and Golgi stack. Is intrinsic component of Golgi membrane. Part of palmitoyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.6).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.948 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GOLGA7 | NM_001002296.2 | c.*1199T>G | 3_prime_UTR_variant | 5/5 | ENST00000357743.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GOLGA7 | ENST00000357743.9 | c.*1199T>G | 3_prime_UTR_variant | 5/5 | 1 | NM_001002296.2 | P1 | ||
GPAT4-AS1 | ENST00000523081.2 | n.2859A>C | non_coding_transcript_exon_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.926 AC: 140795AN: 152112Hom.: 65343 Cov.: 32
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GnomAD4 exome AF: 0.953 AC: 528AN: 554Hom.: 251 Cov.: 0 AF XY: 0.949 AC XY: 336AN XY: 354
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GnomAD4 genome ? AF: 0.926 AC: 140896AN: 152230Hom.: 65386 Cov.: 32 AF XY: 0.923 AC XY: 68713AN XY: 74432
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at