NM_004094.5:c.13A>C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_004094.5(EIF2S1):āc.13A>Cā(p.Ser5Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004094.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2S1 | ENST00000256383.11 | c.13A>C | p.Ser5Arg | missense_variant | Exon 2 of 8 | 1 | NM_004094.5 | ENSP00000256383.4 | ||
EIF2S1 | ENST00000466499.6 | c.13A>C | p.Ser5Arg | missense_variant | Exon 1 of 7 | 1 | ENSP00000425299.1 | |||
EIF2S1 | ENST00000557310.5 | c.13A>C | p.Ser5Arg | missense_variant | Exon 2 of 7 | 2 | ENSP00000451975.1 | |||
EIF2S1 | ENST00000556724.1 | n.118A>C | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000917 AC: 23AN: 250914Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135632
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1460942Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726738
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.13A>C (p.S5R) alteration is located in exon 2 (coding exon 1) of the EIF2S1 gene. This alteration results from a A to C substitution at nucleotide position 13, causing the serine (S) at amino acid position 5 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