5-65224338-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_197941.4(ADAMTS6):āc.2254A>Gā(p.Met752Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00281 in 1,614,074 control chromosomes in the GnomAD database, including 84 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_197941.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0135 AC: 2061AN: 152192Hom.: 41 Cov.: 32
GnomAD3 exomes AF: 0.00398 AC: 1000AN: 251406Hom.: 16 AF XY: 0.00302 AC XY: 411AN XY: 135870
GnomAD4 exome AF: 0.00169 AC: 2476AN: 1461764Hom.: 43 Cov.: 30 AF XY: 0.00154 AC XY: 1123AN XY: 727176
GnomAD4 genome AF: 0.0135 AC: 2062AN: 152310Hom.: 41 Cov.: 32 AF XY: 0.0128 AC XY: 957AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 04, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at