chr8-24394146-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_014479.3(ADAMDEC1):āc.362T>Cā(p.Met121Thr) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00489 in 1,607,606 control chromosomes in the GnomAD database, including 340 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_014479.3 missense, splice_region
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: 0.0257 AC: 3914AN: 152140Hom.: 162 Cov.: 32
GnomAD3 exomes AF: 0.00682 AC: 1710AN: 250712Hom.: 79 AF XY: 0.00505 AC XY: 684AN XY: 135496
GnomAD4 exome AF: 0.00270 AC: 3928AN: 1455348Hom.: 176 Cov.: 29 AF XY: 0.00226 AC XY: 1634AN XY: 724360
GnomAD4 genome AF: 0.0258 AC: 3932AN: 152258Hom.: 164 Cov.: 32 AF XY: 0.0249 AC XY: 1855AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 28, 2017 | - - |
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