chr11-1243461-T-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_002458.3(MUC5B):āc.6581T>Gā(p.Met2194Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M2194T) has been classified as Likely benign.
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.6581T>G | p.Met2194Arg | missense_variant | 31/49 | ENST00000529681.5 | NP_002449.2 | |
MUC5B-AS1 | NR_157183.1 | n.57-823A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.6581T>G | p.Met2194Arg | missense_variant | 31/49 | 5 | NM_002458.3 | ENSP00000436812.1 | ||
MUC5B-AS1 | ENST00000532061.2 | n.57-823A>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 115544Hom.: 0 Cov.: 18 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000149 AC: 2AN: 1338534Hom.: 0 Cov.: 95 AF XY: 0.00000150 AC XY: 1AN XY: 666476
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 115544Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 55728
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at