10-68749624-C-T
Variant summary
Our verdict is Likely benign. The variant received -5 ACMG points: 0P and 5B. BP4BS2
The NM_018237.4(CCAR1):c.1057C>T(p.Arg353Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000545 in 1,613,878 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 Uncertain significance (★).
Frequency
Consequence
NM_018237.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CCAR1 | NM_018237.4 | c.1057C>T | p.Arg353Trp | missense_variant | Exon 10 of 25 | ENST00000265872.11 | NP_060707.2 | |
CCAR1 | NM_001282959.2 | c.1012C>T | p.Arg338Trp | missense_variant | Exon 9 of 24 | NP_001269888.1 | ||
CCAR1 | NM_001282960.2 | c.1012C>T | p.Arg338Trp | missense_variant | Exon 9 of 24 | NP_001269889.1 | ||
CCAR1 | NR_104262.2 | n.1157C>T | non_coding_transcript_exon_variant | Exon 10 of 24 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000358 AC: 9AN: 251426 AF XY: 0.0000368 show subpopulations
GnomAD4 exome AF: 0.0000588 AC: 86AN: 1461734Hom.: 0 Cov.: 31 AF XY: 0.0000468 AC XY: 34AN XY: 727176 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1057C>T (p.R353W) alteration is located in exon 10 (coding exon 9) of the CCAR1 gene. This alteration results from a C to T substitution at nucleotide position 1057, causing the arginine (R) at amino acid position 353 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at