NM_014584.3:c.971G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014584.3(ERO1A):c.971G>T(p.Arg324Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,612,662 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014584.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152000Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251026Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135772
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460662Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726694
GnomAD4 genome AF: 0.000171 AC: 26AN: 152000Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74220
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.971G>T (p.R324L) alteration is located in exon 12 (coding exon 12) of the ERO1A gene. This alteration results from a G to T substitution at nucleotide position 971, causing the arginine (R) at amino acid position 324 to be replaced by a leucine (L). 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