chr11-7488335-A-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_198474.4(OLFML1):c.338A>T(p.Glu113Val) variant causes a missense change. The variant allele was found at a frequency of 0.176 in 1,613,724 control chromosomes in the GnomAD database, including 25,534 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_198474.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.166 AC: 25279AN: 152000Hom.: 2217 Cov.: 32
GnomAD3 exomes AF: 0.182 AC: 45695AN: 251092Hom.: 4496 AF XY: 0.178 AC XY: 24170AN XY: 135692
GnomAD4 exome AF: 0.177 AC: 258583AN: 1461606Hom.: 23315 Cov.: 33 AF XY: 0.175 AC XY: 127550AN XY: 727128
GnomAD4 genome AF: 0.166 AC: 25307AN: 152118Hom.: 2219 Cov.: 32 AF XY: 0.170 AC XY: 12644AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at