rs6681639
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_019032.6(ADAMTSL4):c.939C>A(p.Gly313=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,457,740 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G313G) has been classified as Benign.
Frequency
Consequence
NM_019032.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTSL4 | NM_019032.6 | c.939C>A | p.Gly313= | synonymous_variant | 6/19 | ENST00000271643.9 | |
ADAMTSL4-AS2 | XR_001738229.2 | n.210+2024G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTSL4 | ENST00000271643.9 | c.939C>A | p.Gly313= | synonymous_variant | 6/19 | 5 | NM_019032.6 | P1 | |
ADAMTSL4-AS2 | ENST00000442435.3 | n.476+605G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000841 AC: 2AN: 237848Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129876
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1457740Hom.: 0 Cov.: 45 AF XY: 0.00 AC XY: 0AN XY: 725000
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at