rs1277435377
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001959.4(EEF1B2):c.511G>A(p.Val171Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,459,498 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V171L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001959.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EEF1B2 | NM_001959.4 | c.511G>A | p.Val171Ile | missense_variant | Exon 5 of 6 | ENST00000392222.7 | NP_001950.1 | |
EEF1B2 | NM_001037663.2 | c.511G>A | p.Val171Ile | missense_variant | Exon 6 of 7 | NP_001032752.1 | ||
EEF1B2 | NM_021121.4 | c.511G>A | p.Val171Ile | missense_variant | Exon 6 of 7 | NP_066944.1 | ||
SNORA41 | NR_002590.1 | n.*243G>A | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459498Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725956
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at