15-20534333-G-T
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001145004.2(GOLGA6L6):c.2101C>A(p.Arg701Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. 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: not found (cov: 16)
Exomes 𝑓: 0.000024 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
GOLGA6L6
NM_001145004.2 synonymous
NM_001145004.2 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -5.78
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP7
Synonymous conserved (PhyloP=-5.78 with no splicing effect.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 16
GnomAD3 genomes
Cov.:
16
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000240 AC: 28AN: 1165724Hom.: 0 Cov.: 25 AF XY: 0.0000292 AC XY: 17AN XY: 582386
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
28
AN:
1165724
Hom.:
Cov.:
25
AF XY:
AC XY:
17
AN XY:
582386
Gnomad4 AFR exome
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GnomAD4 genome Cov.: 16
GnomAD4 genome
Cov.:
16
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at