chr3-129411225-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207307.3(EFCAB12):c.968G>A(p.Arg323Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000992 in 1,613,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_207307.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EFCAB12 | NM_207307.3 | c.968G>A | p.Arg323Gln | missense_variant | 5/9 | ENST00000505956.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EFCAB12 | ENST00000505956.6 | c.968G>A | p.Arg323Gln | missense_variant | 5/9 | 1 | NM_207307.3 | P1 | |
EFCAB12 | ENST00000503498.1 | n.4589G>A | non_coding_transcript_exon_variant | 3/7 | 2 | ||||
EFCAB12 | ENST00000514900.5 | n.557G>A | non_coding_transcript_exon_variant | 3/6 | 2 | ||||
EFCAB12 | ENST00000503957.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000483 AC: 12AN: 248290Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134764
GnomAD4 exome AF: 0.000101 AC: 148AN: 1461436Hom.: 0 Cov.: 31 AF XY: 0.000105 AC XY: 76AN XY: 726992
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at