rs17206779
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_197941.4(ADAMTS6):c.3245-5G>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_197941.4 splice_region, splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
ADAMTS6 | NM_197941.4 | c.3245-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000381055.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS6 | ENST00000381055.8 | c.3245-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_197941.4 | P1 | |||
ADAMTS6 | ENST00000381052.8 | c.*2517-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 2 | |||||
ADAMTS6 | ENST00000314351.9 | n.905-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151912Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1456194Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 723882
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151912Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74156
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at