NM_000562.3:c.1455C>T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000562.3(C8A):c.1455C>T(p.Arg485Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0623 in 1,614,082 control chromosomes in the GnomAD database, including 4,779 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000562.3 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: 0.102 AC: 15577AN: 152120Hom.: 1235 Cov.: 33
GnomAD3 exomes AF: 0.0756 AC: 19007AN: 251306Hom.: 1071 AF XY: 0.0752 AC XY: 10218AN XY: 135860
GnomAD4 exome AF: 0.0581 AC: 84892AN: 1461844Hom.: 3542 Cov.: 33 AF XY: 0.0598 AC XY: 43481AN XY: 727226
GnomAD4 genome AF: 0.102 AC: 15599AN: 152238Hom.: 1237 Cov.: 33 AF XY: 0.102 AC XY: 7597AN XY: 74450
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