chr14-22843385-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004995.4(MMP14):āc.817G>Cā(p.Asp273His) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,676 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. D273N) has been classified as Benign.
Frequency
Consequence
NM_004995.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP14 | NM_004995.4 | c.817G>C | p.Asp273His | missense_variant | 5/10 | ENST00000311852.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP14 | ENST00000311852.11 | c.817G>C | p.Asp273His | missense_variant | 5/10 | 1 | NM_004995.4 | P1 | |
MMP14 | ENST00000548162.2 | c.817G>C | p.Asp273His | missense_variant | 5/10 | 5 | |||
MMP14 | ENST00000680097.1 | c.*132G>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | |||||
MMP14 | ENST00000680941.1 | c.*215G>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/11 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461676Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727150
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at