rs8017377
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_025081.3(NYNRIN):c.2932G>A(p.Ala978Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.427 in 1,612,694 control chromosomes in the GnomAD database, including 156,619 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_025081.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.342 AC: 52017AN: 151932Hom.: 10581 Cov.: 32
GnomAD3 exomes AF: 0.366 AC: 90726AN: 247982Hom.: 19143 AF XY: 0.380 AC XY: 51029AN XY: 134328
GnomAD4 exome AF: 0.436 AC: 636622AN: 1460644Hom.: 146044 Cov.: 51 AF XY: 0.436 AC XY: 316871AN XY: 726554
GnomAD4 genome AF: 0.342 AC: 52019AN: 152050Hom.: 10575 Cov.: 32 AF XY: 0.337 AC XY: 25036AN XY: 74302
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 04, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at