rs201326462
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002458.3(MUC5B):c.12967G>A(p.Val4323Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000478 in 1,609,600 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. V4323F) has been classified as Benign.
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.12967G>A | p.Val4323Ile | missense_variant | 31/49 | ENST00000529681.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.12967G>A | p.Val4323Ile | missense_variant | 31/49 | 5 | NM_002458.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000672 AC: 10AN: 148762Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000119 AC: 29AN: 244506Hom.: 0 AF XY: 0.000113 AC XY: 15AN XY: 132632
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1460720Hom.: 0 Cov.: 107 AF XY: 0.0000399 AC XY: 29AN XY: 726684
GnomAD4 genome ? AF: 0.0000672 AC: 10AN: 148880Hom.: 0 Cov.: 31 AF XY: 0.0000826 AC XY: 6AN XY: 72642
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at