6-109444295-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_022765.4(MICAL1):c.3100C>T(p.Leu1034=) variant causes a synonymous change. The variant allele was found at a frequency of 0.000676 in 1,613,494 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L1034L) has been classified as Likely benign.
Frequency
Consequence
NM_022765.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MICAL1 | NM_022765.4 | c.3100C>T | p.Leu1034= | synonymous_variant | 25/25 | ENST00000358807.8 | |
MICAL1 | NM_001286613.2 | c.3157C>T | p.Leu1053= | synonymous_variant | 25/25 | ||
MICAL1 | NM_001159291.2 | c.2842C>T | p.Leu948= | synonymous_variant | 24/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MICAL1 | ENST00000358807.8 | c.3100C>T | p.Leu1034= | synonymous_variant | 25/25 | 1 | NM_022765.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000348 AC: 53AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000307 AC: 77AN: 250596Hom.: 0 AF XY: 0.000324 AC XY: 44AN XY: 135688
GnomAD4 exome AF: 0.000710 AC: 1037AN: 1461208Hom.: 0 Cov.: 33 AF XY: 0.000706 AC XY: 513AN XY: 726920
GnomAD4 genome ? AF: 0.000348 AC: 53AN: 152286Hom.: 0 Cov.: 33 AF XY: 0.000269 AC XY: 20AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at