14-89932613-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145231.4(EFCAB11):c.232G>A(p.Gly78Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000851 in 1,613,224 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145231.4 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 |
---|---|---|---|---|---|---|---|
EFCAB11 | NM_145231.4 | c.232G>A | p.Gly78Arg | missense_variant | 4/6 | ENST00000316738.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EFCAB11 | ENST00000316738.12 | c.232G>A | p.Gly78Arg | missense_variant | 4/6 | 2 | NM_145231.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000257 AC: 39AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000191 AC: 48AN: 251048Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135714
GnomAD4 exome AF: 0.000913 AC: 1334AN: 1461216Hom.: 1 Cov.: 31 AF XY: 0.000900 AC XY: 654AN XY: 726938
GnomAD4 genome AF: 0.000257 AC: 39AN: 152008Hom.: 0 Cov.: 32 AF XY: 0.000189 AC XY: 14AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 30, 2022 | The c.232G>A (p.G78R) alteration is located in exon 4 (coding exon 4) of the EFCAB11 gene. This alteration results from a G to A substitution at nucleotide position 232, causing the glycine (G) at amino acid position 78 to be replaced by an arginine (R). 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