NM_006911.4:c.219A>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_006911.4(RLN1):āc.219A>Gā(p.Val73Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000837 in 1,596,594 control chromosomes in the GnomAD database, including 19 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. Synonymous variant affecting the same amino acid position (i.e. V73V) has been classified as Benign.
Frequency
Consequence
NM_006911.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00456 AC: 692AN: 151860Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00111 AC: 271AN: 243530Hom.: 5 AF XY: 0.000813 AC XY: 107AN XY: 131656
GnomAD4 exome AF: 0.000444 AC: 641AN: 1444618Hom.: 7 Cov.: 29 AF XY: 0.000358 AC XY: 257AN XY: 718568
GnomAD4 genome AF: 0.00457 AC: 695AN: 151976Hom.: 12 Cov.: 32 AF XY: 0.00424 AC XY: 315AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at