chr11-102705644-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_022122.3(MMP27):c.71C>T(p.Thr24Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.831 in 1,591,508 control chromosomes in the GnomAD database, including 550,466 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_022122.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.807 AC: 122646AN: 152052Hom.: 49668 Cov.: 32
GnomAD3 exomes AF: 0.817 AC: 192730AN: 235790Hom.: 79027 AF XY: 0.817 AC XY: 104263AN XY: 127652
GnomAD4 exome AF: 0.833 AC: 1199086AN: 1439338Hom.: 500781 Cov.: 34 AF XY: 0.832 AC XY: 595250AN XY: 715760
GnomAD4 genome AF: 0.806 AC: 122708AN: 152170Hom.: 49685 Cov.: 32 AF XY: 0.807 AC XY: 60073AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at