5-150521281-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001543.5(NDST1):āc.27G>Cā(p.Arg9Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000745 in 1,611,396 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001543.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248990Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134862
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1459230Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726024
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.27G>C (p.R9S) alteration is located in exon 2 (coding exon 1) of the NDST1 gene. This alteration results from a G to C substitution at nucleotide position 27, causing the arginine (R) at amino acid position 9 to be replaced by a serine (S). 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