15-65916896-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001385028.1(MEGF11):c.2147C>T(p.Ala716Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000171 in 1,582,044 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A716G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001385028.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF11 | NM_001385028.1 | c.2147C>T | p.Ala716Val | missense_variant | 17/26 | ENST00000395614.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF11 | ENST00000395614.6 | c.2147C>T | p.Ala716Val | missense_variant | 17/26 | 5 | NM_001385028.1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000197 AC: 4AN: 202674Hom.: 0 AF XY: 0.0000364 AC XY: 4AN XY: 109806
GnomAD4 exome AF: 0.0000126 AC: 18AN: 1429694Hom.: 0 Cov.: 31 AF XY: 0.0000127 AC XY: 9AN XY: 707594
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152350Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 09, 2022 | The c.2147C>T (p.A716V) alteration is located in exon 17 (coding exon 16) of the MEGF11 gene. This alteration results from a C to T substitution at nucleotide position 2147, causing the alanine (A) at amino acid position 716 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at