rs61747644
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_178172.6(GPIHBP1):c.12C>A(p.Leu4=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,443,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L4L) has been classified as Benign.
Frequency
Consequence
NM_178172.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPIHBP1 | NM_178172.6 | c.12C>A | p.Leu4= | synonymous_variant | 1/4 | ENST00000622500.2 | |
GPIHBP1 | NM_001301772.2 | c.12C>A | p.Leu4= | synonymous_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPIHBP1 | ENST00000622500.2 | c.12C>A | p.Leu4= | synonymous_variant | 1/4 | 1 | NM_178172.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000454 AC: 1AN: 220506Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119352
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1443656Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 716886
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at