11-102695029-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022122.3(MMP27):āc.971C>Gā(p.Ser324Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000538 in 1,613,882 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022122.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000407 AC: 62AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000390 AC: 98AN: 250974Hom.: 0 AF XY: 0.000383 AC XY: 52AN XY: 135618
GnomAD4 exome AF: 0.000552 AC: 807AN: 1461730Hom.: 0 Cov.: 30 AF XY: 0.000536 AC XY: 390AN XY: 727170
GnomAD4 genome AF: 0.000407 AC: 62AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.971C>G (p.S324C) alteration is located in exon 7 (coding exon 7) of the MMP27 gene. This alteration results from a C to G substitution at nucleotide position 971, causing the serine (S) at amino acid position 324 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at