2-25161587-CGCCGCTGCT-CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS1
The NM_000939.4(POMC):c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC(p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000417 in 1,557,926 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000939.4 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POMC | NM_000939.4 | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC | p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly | inframe_insertion | 3/3 | ENST00000395826.7 | |
POMC | NM_001035256.3 | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC | p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly | inframe_insertion | 4/4 | ||
POMC | NM_001319204.2 | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC | p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly | inframe_insertion | 4/4 | ||
POMC | NM_001319205.2 | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC | p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly | inframe_insertion | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POMC | ENST00000395826.7 | c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC | p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly | inframe_insertion | 3/3 | 2 | NM_000939.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000152 AC: 23AN: 151776Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000325 AC: 5AN: 153946Hom.: 0 AF XY: 0.0000359 AC XY: 3AN XY: 83598
GnomAD4 exome AF: 0.0000299 AC: 42AN: 1406034Hom.: 0 Cov.: 33 AF XY: 0.0000374 AC XY: 26AN XY: 694672
GnomAD4 genome ? AF: 0.000151 AC: 23AN: 151892Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 9AN XY: 74264
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at