8-63038753-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003878.3(GGH):āc.16T>Cā(p.Cys6Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,562,028 control chromosomes in the GnomAD database, including 58,857 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_003878.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.245 AC: 37240AN: 152004Hom.: 4752 Cov.: 33
GnomAD3 exomes AF: 0.244 AC: 46097AN: 188536Hom.: 5764 AF XY: 0.252 AC XY: 26375AN XY: 104572
GnomAD4 exome AF: 0.274 AC: 386115AN: 1409912Hom.: 54097 Cov.: 31 AF XY: 0.275 AC XY: 192630AN XY: 700096
GnomAD4 genome AF: 0.245 AC: 37272AN: 152116Hom.: 4760 Cov.: 33 AF XY: 0.245 AC XY: 18236AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at