rs1862458
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001414686.1(MUC16):c.18200C>T(p.Ser6067Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.186 in 1,613,506 control chromosomes in the GnomAD database, including 29,491 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001414686.1 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 |
---|---|---|---|---|---|---|---|
MUC16 | NM_001401501.2 | c.17774C>T | p.Ser5925Phe | missense_variant | 6/93 | ENST00000711671.1 | |
MUC16 | NM_001414686.1 | c.18200C>T | p.Ser6067Phe | missense_variant | 7/94 | ||
MUC16 | NM_001414687.1 | c.17654C>T | p.Ser5885Phe | missense_variant | 3/90 | ||
MUC16 | NM_024690.2 | c.17654C>T | p.Ser5885Phe | missense_variant | 3/84 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC16 | ENST00000711672.1 | c.17774C>T | p.Ser5925Phe | missense_variant | 6/88 | A2 | |||
MUC16 | ENST00000710609.1 | c.17774C>T | p.Ser5925Phe | missense_variant | 6/87 | A2 | |||
MUC16 | ENST00000397910.8 | c.17654C>T | p.Ser5885Phe | missense_variant | 3/84 | 5 | P2 | ||
MUC16 | ENST00000710610.1 | c.8480C>T | p.Ser2827Phe | missense_variant | 5/86 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.174 AC: 26413AN: 151924Hom.: 2489 Cov.: 32
GnomAD3 exomes AF: 0.204 AC: 50766AN: 248882Hom.: 5739 AF XY: 0.198 AC XY: 26754AN XY: 135002
GnomAD4 exome AF: 0.187 AC: 273782AN: 1461464Hom.: 26994 Cov.: 65 AF XY: 0.187 AC XY: 136049AN XY: 727010
GnomAD4 genome ? AF: 0.174 AC: 26428AN: 152042Hom.: 2497 Cov.: 32 AF XY: 0.179 AC XY: 13304AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at