16-715764-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024042.4(METRN):c.285C>A(p.Phe95Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000395 in 1,266,732 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 (★).
Frequency
Consequence
NM_024042.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
METRN | ENST00000568223.7 | c.285C>A | p.Phe95Leu | missense_variant | Exon 2 of 4 | 1 | NM_024042.4 | ENSP00000455068.1 | ||
METRN | ENST00000219542.3 | c.237C>A | p.Phe79Leu | missense_variant | Exon 2 of 3 | 2 | ENSP00000219542.3 | |||
METRN | ENST00000567076.5 | c.123C>A | p.Phe41Leu | missense_variant | Exon 1 of 4 | 5 | ENSP00000459900.1 | |||
METRN | ENST00000570132.1 | n.105-112C>A | intron_variant | Intron 1 of 3 | 3 | ENSP00000456647.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151734Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000359 AC: 4AN: 1114998Hom.: 0 Cov.: 31 AF XY: 0.00000562 AC XY: 3AN XY: 534180
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151734Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74118
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.285C>A (p.F95L) alteration is located in exon 2 (coding exon 2) of the METRN gene. This alteration results from a C to A substitution at nucleotide position 285, causing the phenylalanine (F) at amino acid position 95 to be replaced by a leucine (L). 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