chr19-42333707-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001271938.2(MEGF8):c.290C>T(p.Pro97Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,613,868 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P97P) has been classified as Likely benign.
Frequency
Consequence
NM_001271938.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEGF8 | NM_001271938.2 | c.290C>T | p.Pro97Leu | missense_variant | 2/42 | ENST00000251268.11 | |
MEGF8 | NM_001410.3 | c.290C>T | p.Pro97Leu | missense_variant | 2/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEGF8 | ENST00000251268.11 | c.290C>T | p.Pro97Leu | missense_variant | 2/42 | 5 | NM_001271938.2 | A2 | |
MEGF8 | ENST00000334370.8 | c.290C>T | p.Pro97Leu | missense_variant | 2/41 | 1 | P2 | ||
MEGF8 | ENST00000378073.5 | c.-6796C>T | 5_prime_UTR_variant | 2/41 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249124Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135152
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727126
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74338
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2023 | The c.290C>T (p.P97L) alteration is located in exon 2 (coding exon 2) of the MEGF8 gene. This alteration results from a C to T substitution at nucleotide position 290, causing the proline (P) at amino acid position 97 to be replaced by a leucine (L). 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