rs41258306
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001735.3(C5):c.4806A>G(p.Lys1602Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0637 in 1,613,206 control chromosomes in the GnomAD database, including 3,668 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001735.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0580 AC: 8825AN: 152190Hom.: 303 Cov.: 32
GnomAD3 exomes AF: 0.0571 AC: 14348AN: 251378Hom.: 506 AF XY: 0.0572 AC XY: 7776AN XY: 135860
GnomAD4 exome AF: 0.0643 AC: 93873AN: 1460898Hom.: 3360 Cov.: 31 AF XY: 0.0645 AC XY: 46892AN XY: 726806
GnomAD4 genome AF: 0.0581 AC: 8842AN: 152308Hom.: 308 Cov.: 32 AF XY: 0.0559 AC XY: 4160AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at