19-4816293-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182919.4(TICAM1):c.2085G>A(p.Met695Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000328 in 1,523,266 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_182919.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TICAM1 | NM_182919.4 | c.2085G>A | p.Met695Ile | missense_variant | Exon 2 of 2 | ENST00000248244.6 | NP_891549.1 | |
TICAM1 | NM_001385678.1 | c.2043G>A | p.Met681Ile | missense_variant | Exon 3 of 3 | NP_001372607.1 | ||
TICAM1 | NM_001385679.1 | c.1950G>A | p.Met650Ile | missense_variant | Exon 2 of 2 | NP_001372608.1 | ||
TICAM1 | NM_001385680.1 | c.1443G>A | p.Met481Ile | missense_variant | Exon 3 of 3 | NP_001372609.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000548 AC: 1AN: 182638Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 96368
GnomAD4 exome AF: 0.00000292 AC: 4AN: 1371050Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 672490
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at