chr17-76076780-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003857.4(GALR2):c.513C>T(p.Asn171Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,453,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003857.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GALR2 | NM_003857.4 | c.513C>T | p.Asn171Asn | synonymous_variant | Exon 2 of 2 | ENST00000329003.4 | NP_003848.1 | |
GALR2 | XM_011525427.4 | c.342C>T | p.Asn114Asn | synonymous_variant | Exon 4 of 4 | XP_011523729.1 | ||
GALR2 | XM_047436984.1 | c.342C>T | p.Asn114Asn | synonymous_variant | Exon 4 of 4 | XP_047292940.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000822 AC: 2AN: 243236Hom.: 0 AF XY: 0.00000752 AC XY: 1AN XY: 132898
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1453884Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 723692
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at