1-155085133-C-G
Variant summary
Our verdict is Likely pathogenic. The variant received 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_004952.5(EFNA3):c.171C>G(p.Asp57Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004952.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EFNA3 | ENST00000368408.4 | c.171C>G | p.Asp57Glu | missense_variant | Exon 2 of 5 | 1 | NM_004952.5 | ENSP00000357393.3 | ||
EFNA4-EFNA3 | ENST00000505139.1 | c.156C>G | p.Asp52Glu | missense_variant | Exon 2 of 5 | 2 | ENSP00000426741.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.171C>G (p.D57E) alteration is located in exon 2 (coding exon 2) of the EFNA3 gene. This alteration results from a C to G substitution at nucleotide position 171, causing the aspartic acid (D) at amino acid position 57 to be replaced by a glutamic acid (E). 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