NM_000450.2:c.770A>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000450.2(SELE):c.770A>C(p.Gln257Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00127 in 1,614,152 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000450.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00655 AC: 997AN: 152188Hom.: 9 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00186 AC: 466AN: 251140 AF XY: 0.00149 show subpopulations
GnomAD4 exome AF: 0.000725 AC: 1060AN: 1461846Hom.: 12 Cov.: 32 AF XY: 0.000655 AC XY: 476AN XY: 727224 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00655 AC: 997AN: 152306Hom.: 9 Cov.: 32 AF XY: 0.00658 AC XY: 490AN XY: 74474 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at