rs1056892
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001236.4(CBR3):c.730G>A(p.Val244Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.369 in 1,613,776 control chromosomes in the GnomAD database, including 112,002 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001236.4 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 |
---|---|---|---|---|---|---|---|
CBR3 | NM_001236.4 | c.730G>A | p.Val244Met | missense_variant | 3/3 | ENST00000290354.6 | |
CBR3-AS1 | NR_038893.1 | n.93-53C>T | intron_variant, non_coding_transcript_variant | ||||
CBR3-AS1 | NR_038892.1 | n.93-53C>T | intron_variant, non_coding_transcript_variant | ||||
CBR3-AS1 | NR_038894.1 | n.93-53C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CBR3 | ENST00000290354.6 | c.730G>A | p.Val244Met | missense_variant | 3/3 | 1 | NM_001236.4 | P1 | |
CBR3-AS1 | ENST00000624080.1 | n.149-12935C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.387 AC: 58757AN: 151888Hom.: 11707 Cov.: 32
GnomAD3 exomes AF: 0.367 AC: 92349AN: 251384Hom.: 17800 AF XY: 0.374 AC XY: 50747AN XY: 135866
GnomAD4 exome AF: 0.367 AC: 535955AN: 1461772Hom.: 100293 Cov.: 46 AF XY: 0.370 AC XY: 269176AN XY: 727186
GnomAD4 genome ? AF: 0.387 AC: 58788AN: 152004Hom.: 11709 Cov.: 32 AF XY: 0.384 AC XY: 28566AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at