7-34849570-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_207172.2(NPSR1):āc.1031A>Gā(p.Gln344Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.329 in 1,612,262 control chromosomes in the GnomAD database, including 90,615 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_207172.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NPSR1 | NM_207172.2 | c.1031A>G | p.Gln344Arg | missense_variant | Exon 9 of 9 | ENST00000360581.6 | NP_997055.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.332 AC: 50397AN: 152022Hom.: 8692 Cov.: 33
GnomAD3 exomes AF: 0.283 AC: 71077AN: 251364Hom.: 10901 AF XY: 0.279 AC XY: 37970AN XY: 135856
GnomAD4 exome AF: 0.329 AC: 479727AN: 1460122Hom.: 81913 Cov.: 35 AF XY: 0.323 AC XY: 234378AN XY: 726468
GnomAD4 genome AF: 0.331 AC: 50434AN: 152140Hom.: 8702 Cov.: 33 AF XY: 0.323 AC XY: 24016AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at