rs1596797
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001414686.1(MUC16):c.4344A>T(p.Lys1448Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000762 in 1,613,666 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001414686.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC16 | NM_001401501.2 | c.3918A>T | p.Lys1306Asn | missense_variant | 4/93 | ENST00000711671.1 | NP_001388430.1 | |
MUC16 | NM_001414686.1 | c.4344A>T | p.Lys1448Asn | missense_variant | 5/94 | NP_001401615.1 | ||
MUC16 | NM_001414687.1 | c.3798A>T | p.Lys1266Asn | missense_variant | 1/90 | NP_001401616.1 | ||
MUC16 | NM_024690.2 | c.3798A>T | p.Lys1266Asn | missense_variant | 1/84 | NP_078966.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC16 | ENST00000711672.1 | c.3918A>T | p.Lys1306Asn | missense_variant | 4/88 | ENSP00000518832 | A2 | |||
MUC16 | ENST00000710609.1 | c.3918A>T | p.Lys1306Asn | missense_variant | 4/87 | ENSP00000518375 | A2 | |||
MUC16 | ENST00000397910.8 | c.3798A>T | p.Lys1266Asn | missense_variant | 1/84 | 5 | ENSP00000381008 | P2 | ||
MUC16 | ENST00000710610.1 | c.302-7462A>T | intron_variant | ENSP00000518376 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151962Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 249274Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135224
GnomAD4 exome AF: 0.0000821 AC: 120AN: 1461704Hom.: 0 Cov.: 68 AF XY: 0.0000949 AC XY: 69AN XY: 727130
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151962Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74198
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at