12-55837247-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002429.6(MMP19):c.1316G>A(p.Arg439Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000206 in 1,614,212 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002429.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000477 AC: 120AN: 251470Hom.: 0 AF XY: 0.000530 AC XY: 72AN XY: 135910
GnomAD4 exome AF: 0.000208 AC: 304AN: 1461888Hom.: 2 Cov.: 31 AF XY: 0.000243 AC XY: 177AN XY: 727248
GnomAD4 genome AF: 0.000190 AC: 29AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74480
ClinVar
Submissions by phenotype
Familial cavitary optic disk anomaly Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at