7-128947297-CACTCTGCAGCCGCCCACTCTGCGGCCGCCT-C
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 2P and 10B. PM4BP6_ModerateBA1
The NM_001098629.3(IRF5):c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC(p.Arg191_Leu200del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001098629.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Publications
- systemic lupus erythematosusInheritance: Unknown Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.495 AC: 75054AN: 151476Hom.: 18838 Cov.: 0 show subpopulations
GnomAD2 exomes AF: 0.463 AC: 108068AN: 233398 AF XY: 0.467 show subpopulations
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.496 AC: 720257AN: 1451580Hom.: 180811 AF XY: 0.496 AC XY: 358146AN XY: 721776 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome AF: 0.495 AC: 75108AN: 151594Hom.: 18851 Cov.: 0 AF XY: 0.490 AC XY: 36268AN XY: 74040 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at