chr16-11255329-G-GGGGGCC
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The NM_003745.2(SOCS1):c.149_150insGGCCCC(p.Ala49_Pro50dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000389 in 1,464,428 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P50P) has been classified as Likely benign.
Frequency
Consequence
NM_003745.2 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SOCS1 | NM_003745.2 | c.149_150insGGCCCC | p.Ala49_Pro50dup | inframe_insertion | 2/2 | ENST00000332029.4 | |
LOC105371082 | XR_933070.4 | n.178+5561_178+5566dup | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SOCS1 | ENST00000332029.4 | c.149_150insGGCCCC | p.Ala49_Pro50dup | inframe_insertion | 2/2 | 1 | NM_003745.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000461 AC: 7AN: 151950Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000855 AC: 6AN: 70188Hom.: 0 AF XY: 0.000122 AC XY: 5AN XY: 40826
GnomAD4 exome AF: 0.0000381 AC: 50AN: 1312478Hom.: 0 Cov.: 32 AF XY: 0.0000387 AC XY: 25AN XY: 646376
GnomAD4 genome ? AF: 0.0000461 AC: 7AN: 151950Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at