rs738792
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005940.5(MMP11):c.113C>T(p.Ala38Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.88 in 1,590,512 control chromosomes in the GnomAD database, including 622,731 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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 same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A38S) has been classified as Uncertain significance.
Frequency
Consequence
NM_005940.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP11 | NM_005940.5 | c.113C>T | p.Ala38Val | missense_variant | 2/8 | ENST00000215743.8 | |
MMP11 | NR_133013.2 | n.135C>T | non_coding_transcript_exon_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP11 | ENST00000215743.8 | c.113C>T | p.Ala38Val | missense_variant | 2/8 | 1 | NM_005940.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.801 AC: 121792AN: 151986Hom.: 50491 Cov.: 32
GnomAD3 exomes AF: 0.838 AC: 179153AN: 213824Hom.: 76325 AF XY: 0.841 AC XY: 97903AN XY: 116400
GnomAD4 exome AF: 0.888 AC: 1277517AN: 1438408Hom.: 572246 Cov.: 43 AF XY: 0.885 AC XY: 631626AN XY: 713842
GnomAD4 genome ? AF: 0.801 AC: 121811AN: 152104Hom.: 50485 Cov.: 32 AF XY: 0.801 AC XY: 59553AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at