11-102718547-A-T
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_002424.3(MMP8):c.651T>A(p.His217Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,613,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H217Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_002424.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP8 | NM_002424.3 | c.651T>A | p.His217Gln | missense_variant | 5/10 | ENST00000236826.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP8 | ENST00000236826.8 | c.651T>A | p.His217Gln | missense_variant | 5/10 | 1 | NM_002424.3 | P1 | |
MMP8 | ENST00000438475.2 | c.579T>A | p.His193Gln | missense_variant | 5/9 | 5 | |||
MMP8 | ENST00000528662.6 | c.*628T>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/12 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251128Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135710
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461600Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727104
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at