rs56359992
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018406.7(MUC4):āc.7120T>Gā(p.Ser2374Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000234 in 642,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/16 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. S2374P) has been classified as Benign.
Frequency
Consequence
NM_018406.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC4 | NM_018406.7 | c.7120T>G | p.Ser2374Ala | missense_variant | 2/25 | ENST00000463781.8 | |
MUC4 | NM_004532.6 | c.83-6005T>G | intron_variant | ||||
MUC4 | NM_138297.5 | c.83-10155T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC4 | ENST00000463781.8 | c.7120T>G | p.Ser2374Ala | missense_variant | 2/25 | 5 | NM_018406.7 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000774 AC: 5AN: 64562Hom.: 0 Cov.: 0
GnomAD4 exome AF: 0.0000173 AC: 10AN: 577466Hom.: 0 Cov.: 295 AF XY: 0.00000714 AC XY: 2AN XY: 279946
GnomAD4 genome ? AF: 0.0000774 AC: 5AN: 64562Hom.: 0 Cov.: 0 AF XY: 0.0000961 AC XY: 3AN XY: 31218
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at