chr15-66703342-C-CGGCGGCGGT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005585.5(SMAD6):c.92_100dupGTGGCGGCG(p.Gly31_Gly33dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000751 in 1,331,468 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. D34D) has been classified as Likely benign.
Frequency
Consequence
NM_005585.5 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMAD6 | NM_005585.5 | c.92_100dupGTGGCGGCG | p.Gly31_Gly33dup | disruptive_inframe_insertion | Exon 1 of 4 | ENST00000288840.10 | NP_005576.3 | |
SMAD6 | NR_027654.2 | n.1115_1123dupGTGGCGGCG | non_coding_transcript_exon_variant | Exon 1 of 5 | ||||
SMAD6 | XR_931827.3 | n.1115_1123dupGTGGCGGCG | non_coding_transcript_exon_variant | Exon 1 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMAD6 | ENST00000288840.10 | c.92_100dupGTGGCGGCG | p.Gly31_Gly33dup | disruptive_inframe_insertion | Exon 1 of 4 | 1 | NM_005585.5 | ENSP00000288840.5 | ||
SMAD6 | ENST00000557916.5 | n.92_100dupGTGGCGGCG | non_coding_transcript_exon_variant | Exon 1 of 5 | 1 | ENSP00000452955.1 | ||||
SMAD6 | ENST00000612349.1 | n.274_282dupGTGGCGGCG | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000110 AC: 1AN: 91254Hom.: 0 AF XY: 0.0000196 AC XY: 1AN XY: 50952
GnomAD4 exome AF: 7.51e-7 AC: 1AN: 1331468Hom.: 0 Cov.: 31 AF XY: 0.00000152 AC XY: 1AN XY: 656716
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at