rs17802735
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_020436.5(SALL4):c.2640G>C(p.Ser880=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.117 in 1,614,150 control chromosomes in the GnomAD database, including 12,275 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S880S) has been classified as Likely benign.
Frequency
Consequence
NM_020436.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SALL4 | NM_020436.5 | c.2640G>C | p.Ser880= | synonymous_variant | 3/4 | ENST00000217086.9 | |
SALL4 | NM_001318031.2 | c.1329G>C | p.Ser443= | synonymous_variant | 3/4 | ||
SALL4 | XM_047440318.1 | c.2334G>C | p.Ser778= | synonymous_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SALL4 | ENST00000217086.9 | c.2640G>C | p.Ser880= | synonymous_variant | 3/4 | 1 | NM_020436.5 | P1 | |
SALL4 | ENST00000395997.3 | c.1329G>C | p.Ser443= | synonymous_variant | 3/4 | 1 | |||
SALL4 | ENST00000371539.7 | c.309G>C | p.Ser103= | synonymous_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0877 AC: 13341AN: 152168Hom.: 811 Cov.: 32
GnomAD3 exomes AF: 0.0916 AC: 23021AN: 251444Hom.: 1317 AF XY: 0.0945 AC XY: 12842AN XY: 135906
GnomAD4 exome AF: 0.120 AC: 175852AN: 1461864Hom.: 11464 Cov.: 32 AF XY: 0.119 AC XY: 86581AN XY: 727234
GnomAD4 genome ? AF: 0.0876 AC: 13339AN: 152286Hom.: 811 Cov.: 32 AF XY: 0.0863 AC XY: 6426AN XY: 74466
ClinVar
Submissions by phenotype
not specified Benign:3
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | - | - - |
Duane-radial ray syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at