rs60369023
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBS1BS2
The NM_001785.3(CDA):c.208G>A(p.Ala70Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000483 in 1,613,924 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A70A) has been classified as Benign.
Frequency
Consequence
NM_001785.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152212Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000259 AC: 65AN: 251076Hom.: 1 AF XY: 0.000243 AC XY: 33AN XY: 135702
GnomAD4 exome AF: 0.000496 AC: 725AN: 1461594Hom.: 11 Cov.: 31 AF XY: 0.000492 AC XY: 358AN XY: 727082
GnomAD4 genome AF: 0.000354 AC: 54AN: 152330Hom.: 2 Cov.: 32 AF XY: 0.000416 AC XY: 31AN XY: 74486
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at