rs4747096
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_080722.4(ADAMTS14):c.3146A>G(p.Glu1049Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 1,613,734 control chromosomes in the GnomAD database, including 27,609 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1049D) has been classified as Uncertain significance.
Frequency
Consequence
NM_080722.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS14 | NM_080722.4 | c.3146A>G | p.Glu1049Gly | missense_variant | 21/22 | ENST00000373207.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS14 | ENST00000373207.2 | c.3146A>G | p.Glu1049Gly | missense_variant | 21/22 | 1 | NM_080722.4 | P4 | |
ADAMTS14 | ENST00000373208.5 | c.3155A>G | p.Glu1052Gly | missense_variant | 21/22 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.188 AC: 28622AN: 152084Hom.: 2803 Cov.: 33
GnomAD3 exomes AF: 0.192 AC: 48305AN: 251106Hom.: 5095 AF XY: 0.188 AC XY: 25532AN XY: 135716
GnomAD4 exome AF: 0.179 AC: 262019AN: 1461532Hom.: 24808 Cov.: 36 AF XY: 0.178 AC XY: 129417AN XY: 727068
GnomAD4 genome ? AF: 0.188 AC: 28622AN: 152202Hom.: 2801 Cov.: 33 AF XY: 0.191 AC XY: 14213AN XY: 74418
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 15, 2020 | This variant is associated with the following publications: (PMID: 23491141) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at