NM_001001968.1:c.625G>A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001001968.1(OR6S1):c.625G>A(p.Val209Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,614,090 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001968.1 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152102Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000796 AC: 20AN: 251404 AF XY: 0.0000957 show subpopulations
GnomAD4 exome AF: 0.0000999 AC: 146AN: 1461870Hom.: 1 Cov.: 46 AF XY: 0.000107 AC XY: 78AN XY: 727234 show subpopulations
GnomAD4 genome AF: 0.000125 AC: 19AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74414 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.625G>A (p.V209I) alteration is located in exon 1 (coding exon 1) of the OR6S1 gene. This alteration results from a G to A substitution at nucleotide position 625, causing the valine (V) at amino acid position 209 to be replaced by an isoleucine (I). 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