rs12110
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014164.6(FXYD5):c.527G>A(p.Arg176His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.806 in 1,606,312 control chromosomes in the GnomAD database, including 523,678 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict 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_014164.6 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: 0.835 AC: 126916AN: 152054Hom.: 53411 Cov.: 31
GnomAD3 exomes AF: 0.812 AC: 202037AN: 248846Hom.: 82628 AF XY: 0.808 AC XY: 108779AN XY: 134704
GnomAD4 exome AF: 0.803 AC: 1166949AN: 1454140Hom.: 470210 Cov.: 34 AF XY: 0.802 AC XY: 580811AN XY: 723890
GnomAD4 genome AF: 0.835 AC: 127032AN: 152172Hom.: 53468 Cov.: 31 AF XY: 0.832 AC XY: 61894AN XY: 74388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at