rs6580742
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_001145475.3(FAM186A):c.6579G>T(p.Met2193Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts 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 Benignin ClinVar.
Frequency
Consequence
NM_001145475.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM186A | NM_001145475.3 | c.6579G>T | p.Met2193Ile | missense_variant | 5/8 | ENST00000327337.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM186A | ENST00000327337.6 | c.6579G>T | p.Met2193Ile | missense_variant | 5/8 | 5 | NM_001145475.3 | A2 | |
FAM186A | ENST00000543111.5 | c.6579G>T | p.Met2193Ile | missense_variant | 5/8 | 5 | A2 | ||
FAM186A | ENST00000543096.5 | c.612G>T | p.Met204Ile | missense_variant | 2/5 | 2 | P4 | ||
FAM186A | ENST00000539751.1 | c.78G>T | p.Met26Ile | missense_variant, NMD_transcript_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at