15-70664767-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_018003.4(UACA):āc.4008T>Cā(p.Asn1336Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00309 in 1,613,628 control chromosomes in the GnomAD database, including 129 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_018003.4 synonymous
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: 0.0162 AC: 2467AN: 152150Hom.: 61 Cov.: 32
GnomAD3 exomes AF: 0.00444 AC: 1114AN: 250780Hom.: 33 AF XY: 0.00336 AC XY: 456AN XY: 135542
GnomAD4 exome AF: 0.00171 AC: 2505AN: 1461360Hom.: 68 Cov.: 30 AF XY: 0.00153 AC XY: 1115AN XY: 726974
GnomAD4 genome AF: 0.0163 AC: 2475AN: 152268Hom.: 61 Cov.: 32 AF XY: 0.0155 AC XY: 1155AN XY: 74446
ClinVar
Submissions by phenotype
UACA-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at