7-14701685-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001350709.2(DGKB):c.512G>A(p.Ser171Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000343 in 1,456,628 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001350709.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DGKB | NM_001350709.2 | c.512G>A | p.Ser171Asn | missense_variant | Exon 7 of 26 | ENST00000402815.6 | NP_001337638.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248404Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134788
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1456628Hom.: 0 Cov.: 28 AF XY: 0.00000414 AC XY: 3AN XY: 724950
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.512G>A (p.S171N) alteration is located in exon 6 (coding exon 6) of the DGKB gene. This alteration results from a G to A substitution at nucleotide position 512, causing the serine (S) at amino acid position 171 to be replaced by an asparagine (N). 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