rs727504039
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001291867.2(NHS):c.152C>G(p.Ala51Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 983,242 control chromosomes in the GnomAD database, including 1 homozygotes. There are 7 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/17 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A51V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001291867.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NHS | NM_001291867.2 | c.152C>G | p.Ala51Gly | missense_variant | 1/9 | ENST00000676302.1 | |
NHS | NM_198270.4 | c.152C>G | p.Ala51Gly | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NHS | ENST00000676302.1 | c.152C>G | p.Ala51Gly | missense_variant | 1/9 | NM_001291867.2 | P4 | ||
NHS | ENST00000380060.7 | c.152C>G | p.Ala51Gly | missense_variant | 1/8 | 1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD3 exomes AF: 0.0000220 AC: 1AN: 45459Hom.: 0 AF XY: 0.0000782 AC XY: 1AN XY: 12783
GnomAD4 exome AF: 0.0000132 AC: 13AN: 983242Hom.: 1 Cov.: 32 AF XY: 0.0000222 AC XY: 7AN XY: 315438
GnomAD4 genome ? Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at