NM_001940.4:c.485C>G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001940.4(ATN1):āc.485C>Gā(p.Pro162Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,613,910 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001940.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152074Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250686Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135522
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461718Hom.: 0 Cov.: 38 AF XY: 0.0000138 AC XY: 10AN XY: 727170
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74392
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.485C>G (p.P162R) alteration is located in exon 5 (coding exon 4) of the ATN1 gene. This alteration results from a C to G substitution at nucleotide position 485, causing the proline (P) at amino acid position 162 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at