rs5063
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006172.4(NPPA):c.94G>A(p.Val32Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.054 in 1,614,070 control chromosomes in the GnomAD database, including 2,754 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006172.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0538 AC: 8183AN: 152082Hom.: 278 Cov.: 32
GnomAD3 exomes AF: 0.0559 AC: 14048AN: 251492Hom.: 542 AF XY: 0.0564 AC XY: 7671AN XY: 135920
GnomAD4 exome AF: 0.0540 AC: 78985AN: 1461870Hom.: 2476 Cov.: 33 AF XY: 0.0549 AC XY: 39917AN XY: 727236
GnomAD4 genome AF: 0.0538 AC: 8188AN: 152200Hom.: 278 Cov.: 32 AF XY: 0.0533 AC XY: 3967AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 30, 2019 | This variant is associated with the following publications: (PMID: 16368448, 25854761, 17984371, 20543198, 20064500) - |
Atrial fibrillation, familial, 6 Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 03, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at