chr19-8865686-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001414686.1(MUC16):c.43114G>A(p.Gly14372Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000547 in 1,598,282 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001414686.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC16 | NM_001401501.2 | c.42688G>A | p.Gly14230Arg | missense_variant | 84/93 | ENST00000711671.1 | |
MUC16 | NM_001414686.1 | c.43114G>A | p.Gly14372Arg | missense_variant | 85/94 | ||
MUC16 | NM_001414687.1 | c.42568G>A | p.Gly14190Arg | missense_variant | 81/90 | ||
MUC16 | NM_024690.2 | c.42466G>A | p.Gly14156Arg | missense_variant | 75/84 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC16 | ENST00000711672.1 | c.42652G>A | p.Gly14218Arg | missense_variant | 79/88 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000644 AC: 98AN: 152100Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00124 AC: 288AN: 232844Hom.: 2 AF XY: 0.00142 AC XY: 180AN XY: 126714
GnomAD4 exome AF: 0.000535 AC: 773AN: 1446064Hom.: 3 Cov.: 31 AF XY: 0.000669 AC XY: 481AN XY: 719172
GnomAD4 genome ? AF: 0.000670 AC: 102AN: 152218Hom.: 2 Cov.: 31 AF XY: 0.000779 AC XY: 58AN XY: 74416
ClinVar
Submissions by phenotype
MUC16-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 28, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at