rs17138681
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_173800.5(LVRN):c.2806G>A(p.Val936Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00528 in 1,558,512 control chromosomes in the GnomAD database, including 310 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_173800.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0265 AC: 4033AN: 152116Hom.: 175 Cov.: 32
GnomAD3 exomes AF: 0.00840 AC: 1885AN: 224496Hom.: 65 AF XY: 0.00685 AC XY: 836AN XY: 122010
GnomAD4 exome AF: 0.00298 AC: 4184AN: 1406278Hom.: 132 Cov.: 27 AF XY: 0.00267 AC XY: 1872AN XY: 701426
GnomAD4 genome AF: 0.0266 AC: 4047AN: 152234Hom.: 178 Cov.: 32 AF XY: 0.0259 AC XY: 1925AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at