rs41380244
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_002422.5(MMP3):c.306C>T(p.Thr102=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,756 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T102T) has been classified as Benign.
Frequency
Consequence
NM_002422.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP3 | NM_002422.5 | c.306C>T | p.Thr102= | synonymous_variant | 2/10 | ENST00000299855.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP3 | ENST00000299855.10 | c.306C>T | p.Thr102= | synonymous_variant | 2/10 | 1 | NM_002422.5 | P1 | |
MMP3 | ENST00000524478.1 | c.*148C>T | 3_prime_UTR_variant, NMD_transcript_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152064Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251098Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135708
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461692Hom.: 0 Cov.: 57 AF XY: 0.0000248 AC XY: 18AN XY: 727126
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152064Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at