rs201197242
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_198529.4(EFCAB5):c.42+1G>A variant causes a splice donor, intron change. The variant allele was found at a frequency of 0.00393 in 1,602,532 control chromosomes in the GnomAD database, including 74 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_198529.4 splice_donor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00529 AC: 804AN: 152126Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00527 AC: 1216AN: 230648Hom.: 11 AF XY: 0.00527 AC XY: 655AN XY: 124406
GnomAD4 exome AF: 0.00378 AC: 5486AN: 1450290Hom.: 64 Cov.: 31 AF XY: 0.00398 AC XY: 2866AN XY: 720196
GnomAD4 genome AF: 0.00528 AC: 804AN: 152242Hom.: 10 Cov.: 32 AF XY: 0.00572 AC XY: 426AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:1Other:1
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
EFCAB5: BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at