rs79943354
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001723.7(DST):āc.5485C>Gā(p.Gln1829Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00183 in 1,614,068 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001723.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DST | NM_001723.7 | c.5485C>G | p.Gln1829Glu | missense_variant | 23/24 | ENST00000370765.11 | |
DST | NM_001374736.1 | c.4930-4065C>G | intron_variant | ENST00000680361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DST | ENST00000370765.11 | c.5485C>G | p.Gln1829Glu | missense_variant | 23/24 | 1 | NM_001723.7 | ||
DST | ENST00000680361.1 | c.4930-4065C>G | intron_variant | NM_001374736.1 |
Frequencies
GnomAD3 genomes AF: 0.0101 AC: 1530AN: 152110Hom.: 26 Cov.: 32
GnomAD3 exomes AF: 0.00248 AC: 622AN: 251242Hom.: 9 AF XY: 0.00151 AC XY: 205AN XY: 135790
GnomAD4 exome AF: 0.000974 AC: 1424AN: 1461840Hom.: 22 Cov.: 36 AF XY: 0.000829 AC XY: 603AN XY: 727218
GnomAD4 genome AF: 0.0101 AC: 1531AN: 152228Hom.: 26 Cov.: 32 AF XY: 0.00990 AC XY: 737AN XY: 74430
ClinVar
Submissions by phenotype
Hereditary sensory and autonomic neuropathy type 6;C3809470:Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 29, 2021 | - - |
Hereditary sensory and autonomic neuropathy type 6 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at