chrX-70199376-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_198512.3(DGAT2L6):c.191G>C(p.Ser64Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000532 in 1,165,329 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 32 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198512.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGAT2L6 | NM_198512.3 | c.191G>C | p.Ser64Thr | missense_variant | 2/7 | ENST00000333026.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGAT2L6 | ENST00000333026.4 | c.191G>C | p.Ser64Thr | missense_variant | 2/7 | 1 | NM_198512.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000906 AC: 1AN: 110349Hom.: 0 Cov.: 22 AF XY: 0.0000307 AC XY: 1AN XY: 32603
GnomAD3 exomes AF: 0.000165 AC: 23AN: 139239Hom.: 0 AF XY: 0.000238 AC XY: 10AN XY: 42023
GnomAD4 exome AF: 0.0000578 AC: 61AN: 1054931Hom.: 0 Cov.: 28 AF XY: 0.0000932 AC XY: 31AN XY: 332545
GnomAD4 genome ? AF: 0.00000906 AC: 1AN: 110398Hom.: 0 Cov.: 22 AF XY: 0.0000306 AC XY: 1AN XY: 32662
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2023 | The c.191G>C (p.S64T) alteration is located in exon 2 (coding exon 2) of the DGAT2L6 gene. This alteration results from a G to C substitution at nucleotide position 191, causing the serine (S) at amino acid position 64 to be replaced by a threonine (T). 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