4-75990821-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018115.4(SDAD1):c.21C>G(p.Asn7Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,614,102 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018115.4 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: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249546Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135388
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727218
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.21C>G (p.N7K) alteration is located in exon 1 (coding exon 1) of the SDAD1 gene. This alteration results from a C to G substitution at nucleotide position 21, causing the asparagine (N) at amino acid position 7 to be replaced by a lysine (K). 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