chr3-122261920-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000388.4(CASR):c.885C>A(p.Ala295Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. A295A) has been classified as Likely benign.
Frequency
Consequence
NM_000388.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CASR | ENST00000639785.2 | c.885C>A | p.Ala295Ala | synonymous_variant | Exon 4 of 7 | 1 | NM_000388.4 | ENSP00000491584.2 | ||
CASR | ENST00000498619.4 | c.885C>A | p.Ala295Ala | synonymous_variant | Exon 4 of 7 | 1 | ENSP00000420194.1 | |||
CASR | ENST00000638421.1 | c.885C>A | p.Ala295Ala | synonymous_variant | Exon 4 of 7 | 5 | ENSP00000492190.1 | |||
CASR | ENST00000490131.7 | c.885C>A | p.Ala295Ala | synonymous_variant | Exon 3 of 5 | 5 | ENSP00000418685.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at