rs149306045
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002424.3(MMP8):c.1120G>T(p.Val374Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000144 in 1,388,730 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V374I) has been classified as Uncertain significance.
Frequency
Consequence
NM_002424.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMP8 | ENST00000236826.8 | c.1120G>T | p.Val374Phe | missense_variant | Exon 8 of 10 | 1 | NM_002424.3 | ENSP00000236826.3 | ||
MMP8 | ENST00000438475.2 | c.961+678G>T | intron_variant | Intron 7 of 8 | 5 | ENSP00000401004.2 | ||||
MMP8 | ENST00000528662.6 | n.*1097G>T | non_coding_transcript_exon_variant | Exon 10 of 12 | 5 | ENSP00000431431.2 | ||||
MMP8 | ENST00000528662.6 | n.*1097G>T | 3_prime_UTR_variant | Exon 10 of 12 | 5 | ENSP00000431431.2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1388730Hom.: 0 Cov.: 30 AF XY: 0.00000145 AC XY: 1AN XY: 689770
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.