chr12-6935780-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001940.4(ATN1):c.513G>A(p.Pro171Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0045 in 1,612,506 control chromosomes in the GnomAD database, including 394 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001940.4 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: 0.00859 AC: 1297AN: 151050Hom.: 60 Cov.: 31
GnomAD3 exomes AF: 0.0184 AC: 4602AN: 250136Hom.: 283 AF XY: 0.0136 AC XY: 1837AN XY: 135286
GnomAD4 exome AF: 0.00408 AC: 5957AN: 1461340Hom.: 332 Cov.: 38 AF XY: 0.00339 AC XY: 2465AN XY: 726972
GnomAD4 genome AF: 0.00863 AC: 1305AN: 151166Hom.: 62 Cov.: 31 AF XY: 0.00971 AC XY: 717AN XY: 73838
ClinVar
Submissions by phenotype
not provided Benign:2
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ATN1-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