10-81876041-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010848.4(NRG3):c.701A>T(p.Tyr234Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000821 in 1,461,616 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 (★). Synonymous variant affecting the same amino acid position (i.e. Y234Y) has been classified as Benign.
Frequency
Consequence
NM_001010848.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NRG3 | NM_001010848.4 | c.701A>T | p.Tyr234Phe | missense_variant | 1/9 | ENST00000372141.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NRG3 | ENST00000372141.7 | c.701A>T | p.Tyr234Phe | missense_variant | 1/9 | 1 | NM_001010848.4 | A2 | |
NRG3 | ENST00000404547.5 | c.701A>T | p.Tyr234Phe | missense_variant | 1/10 | 1 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249480Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135090
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461616Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727114
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.701A>T (p.Y234F) alteration is located in exon 1 (coding exon 1) of the NRG3 gene. This alteration results from a A to T substitution at nucleotide position 701, causing the tyrosine (Y) at amino acid position 234 to be replaced by a phenylalanine (F). 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