11-1250199-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002458.3(MUC5B):āc.13319C>Gā(p.Pro4440Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000162 in 1,606,854 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P4440L) has been classified as Benign.
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.13319C>G | p.Pro4440Arg | missense_variant | 31/49 | ENST00000529681.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.13319C>G | p.Pro4440Arg | missense_variant | 31/49 | 5 | NM_002458.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 147886Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000907 AC: 22AN: 242498Hom.: 0 AF XY: 0.0000910 AC XY: 12AN XY: 131866
GnomAD4 exome AF: 0.0000165 AC: 24AN: 1458968Hom.: 0 Cov.: 140 AF XY: 0.0000138 AC XY: 10AN XY: 725764
GnomAD4 genome AF: 0.0000135 AC: 2AN: 147886Hom.: 0 Cov.: 30 AF XY: 0.0000277 AC XY: 2AN XY: 72080
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at