chr16-11255329-GGGGGCC-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BS1_SupportingBS2
The NM_003745.2(SOCS1):c.144_149delGGCCCC(p.Ala49_Pro50del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.000388 in 1,464,420 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003745.2 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 151950Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000214 AC: 15AN: 70188Hom.: 0 AF XY: 0.000147 AC XY: 6AN XY: 40826
GnomAD4 exome AF: 0.000406 AC: 533AN: 1312470Hom.: 0 AF XY: 0.000362 AC XY: 234AN XY: 646374
GnomAD4 genome AF: 0.000230 AC: 35AN: 151950Hom.: 0 Cov.: 33 AF XY: 0.000283 AC XY: 21AN XY: 74234
ClinVar
Submissions by phenotype
not provided Uncertain:1
In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
not specified Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at