rs2943517
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002458.3(MUC5B):c.13211C>G(p.Ala4404Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.443 in 1,610,152 control chromosomes in the GnomAD database, including 159,555 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.13211C>G | p.Ala4404Gly | missense_variant | 31/49 | ENST00000529681.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.13211C>G | p.Ala4404Gly | missense_variant | 31/49 | 5 | NM_002458.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.423 AC: 63651AN: 150322Hom.: 13728 Cov.: 30
GnomAD3 exomes AF: 0.469 AC: 115850AN: 246994Hom.: 27874 AF XY: 0.463 AC XY: 62189AN XY: 134374
GnomAD4 exome AF: 0.445 AC: 648945AN: 1459718Hom.: 145811 Cov.: 117 AF XY: 0.443 AC XY: 321912AN XY: 726116
GnomAD4 genome ? AF: 0.423 AC: 63691AN: 150434Hom.: 13744 Cov.: 30 AF XY: 0.431 AC XY: 31663AN XY: 73416
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at