rs199812923
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_018406.7(MUC4):c.8223G>T(p.Glu2741Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/17 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 nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
NM_018406.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC4 | NM_018406.7 | c.8223G>T | p.Glu2741Asp | missense_variant | 2/25 | ENST00000463781.8 | |
MUC4 | NM_004532.6 | c.83-4902G>T | intron_variant | ||||
MUC4 | NM_138297.5 | c.83-9052G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC4 | ENST00000463781.8 | c.8223G>T | p.Glu2741Asp | missense_variant | 2/25 | 5 | NM_018406.7 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00309 AC: 29AN: 9372Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.00103 AC: 47AN: 45466Hom.: 0 AF XY: 0.00114 AC XY: 27AN XY: 23748
GnomAD4 exome AF: 0.0196 AC: 6361AN: 323824Hom.: 50 Cov.: 8 AF XY: 0.0198 AC XY: 3189AN XY: 160996
GnomAD4 genome AF: 0.00330 AC: 31AN: 9384Hom.: 0 Cov.: 0 AF XY: 0.00428 AC XY: 19AN XY: 4436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at