chr8-31640156-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000520407.5(NRG1):c.172G>A(p.Gly58Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.123 in 1,176,150 control chromosomes in the GnomAD database, including 9,403 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000520407.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NRG1 | NM_013962.3 | c.172G>A | p.Gly58Arg | missense_variant | 1/5 | ||
NRG1 | XM_011544512.3 | c.172G>A | p.Gly58Arg | missense_variant | 1/13 | ||
NRG1 | XM_017013367.2 | c.172G>A | p.Gly58Arg | missense_variant | 1/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NRG1 | ENST00000520407.5 | c.172G>A | p.Gly58Arg | missense_variant | 1/5 | 1 | |||
NRG1 | ENST00000519301.6 | c.37+725G>A | intron_variant | 5 | |||||
NRG1 | ENST00000650866.1 | c.37+725G>A | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.132 AC: 19567AN: 148312Hom.: 1425 Cov.: 32
GnomAD3 exomes AF: 0.141 AC: 827AN: 5858Hom.: 89 AF XY: 0.142 AC XY: 519AN XY: 3650
GnomAD4 exome AF: 0.121 AC: 124639AN: 1027736Hom.: 7976 Cov.: 35 AF XY: 0.121 AC XY: 59254AN XY: 489586
GnomAD4 genome ? AF: 0.132 AC: 19578AN: 148414Hom.: 1427 Cov.: 32 AF XY: 0.134 AC XY: 9659AN XY: 72322
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 15, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at