2-27217614-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_004341.5(CAD):c.63G>A(p.Val21Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,455,410 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 Likely benign (★).
Frequency
Consequence
NM_004341.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAD | NM_004341.5 | c.63G>A | p.Val21Val | synonymous_variant | Exon 1 of 44 | ENST00000264705.9 | NP_004332.2 | |
CAD | NM_001306079.2 | c.63G>A | p.Val21Val | synonymous_variant | Exon 1 of 43 | NP_001293008.1 | ||
CAD | XM_047445803.1 | c.63G>A | p.Val21Val | synonymous_variant | Exon 1 of 45 | XP_047301759.1 | ||
CAD | XM_006712101.4 | c.63G>A | p.Val21Val | synonymous_variant | Exon 1 of 44 | XP_006712164.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455410Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 723528
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.