chr6-44254981-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_178148.4(SLC35B2):āc.1024C>Gā(p.Leu342Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00247 in 1,614,214 control chromosomes in the GnomAD database, including 85 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_178148.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC35B2 | NM_178148.4 | c.1024C>G | p.Leu342Val | missense_variant | 4/4 | ENST00000393812.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC35B2 | ENST00000393812.4 | c.1024C>G | p.Leu342Val | missense_variant | 4/4 | 1 | NM_178148.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00378 AC: 575AN: 152234Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00685 AC: 1721AN: 251312Hom.: 40 AF XY: 0.00595 AC XY: 808AN XY: 135858
GnomAD4 exome AF: 0.00233 AC: 3410AN: 1461862Hom.: 75 Cov.: 30 AF XY: 0.00228 AC XY: 1659AN XY: 727234
GnomAD4 genome AF: 0.00375 AC: 571AN: 152352Hom.: 10 Cov.: 32 AF XY: 0.00427 AC XY: 318AN XY: 74500
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 20, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at