15-43793821-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001199875.1(SERF2):c.362G>C(p.Gly121Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,613,510 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001199875.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151652Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251378Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135878
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727232
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151652Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74020
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.362G>C (p.G121A) alteration is located in exon 3 (coding exon 3) of the SERF2 gene. This alteration results from a G to C substitution at nucleotide position 362, causing the glycine (G) at amino acid position 121 to be replaced by an alanine (A). 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