rs905963
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XM_047416555.1(LOC124900173):c.841T>A(p.Phe281Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000921 in 152,030 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 4/4 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
XM_047416555.1 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 | UniProt |
---|---|---|---|---|---|---|---|
LOC124900173 | XM_047416555.1 | c.841T>A | p.Phe281Ile | missense_variant | 2/3 | ||
ADGRL3 | NM_001387552.1 | c.-1111T>A | 5_prime_UTR_variant | 1/27 | ENST00000683033.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRL3 | ENST00000683033.1 | c.-1111T>A | 5_prime_UTR_variant | 1/27 | NM_001387552.1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000922 AC: 14AN: 151920Hom.: 0 Cov.: 31
GnomAD4 genome ? AF: 0.0000921 AC: 14AN: 152030Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at