rs1051992
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_145040.3(CAVIN3):āc.473T>Cā(p.Leu158Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.544 in 1,606,178 control chromosomes in the GnomAD database, including 239,745 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_145040.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAVIN3 | NM_145040.3 | c.473T>C | p.Leu158Pro | missense_variant | 2/2 | ENST00000303927.4 | |
LOC101927825 | XR_007062569.1 | n.336A>G | non_coding_transcript_exon_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAVIN3 | ENST00000303927.4 | c.473T>C | p.Leu158Pro | missense_variant | 2/2 | 1 | NM_145040.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.515 AC: 78272AN: 152032Hom.: 20604 Cov.: 34
GnomAD3 exomes AF: 0.550 AC: 130009AN: 236392Hom.: 36196 AF XY: 0.559 AC XY: 72538AN XY: 129648
GnomAD4 exome AF: 0.547 AC: 795125AN: 1454026Hom.: 219133 Cov.: 62 AF XY: 0.550 AC XY: 397635AN XY: 723450
GnomAD4 genome ? AF: 0.515 AC: 78313AN: 152152Hom.: 20612 Cov.: 34 AF XY: 0.520 AC XY: 38703AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at