rs751703046
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001018116.2(CAVIN4):c.920G>A(p.Ser307Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000692 in 1,445,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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
NM_001018116.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAVIN4 | NM_001018116.2 | c.920G>A | p.Ser307Asn | missense_variant | Exon 2 of 2 | ENST00000307584.6 | NP_001018126.1 | |
CAVIN4 | XM_047423346.1 | c.896G>A | p.Ser299Asn | missense_variant | Exon 3 of 3 | XP_047279302.1 | ||
CAVIN4 | XM_047423347.1 | c.533G>A | p.Ser178Asn | missense_variant | Exon 2 of 2 | XP_047279303.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1445380Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 716860
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.