rs61737139
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_020436.5(SALL4):c.645C>T(p.Leu215=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L215L) has been classified as Benign.
Frequency
Consequence
NM_020436.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SALL4 | NM_020436.5 | c.645C>T | p.Leu215= | synonymous_variant | 2/4 | ENST00000217086.9 | |
SALL4 | NM_001318031.2 | c.645C>T | p.Leu215= | synonymous_variant | 2/4 | ||
SALL4 | XM_047440318.1 | c.339C>T | p.Leu113= | synonymous_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SALL4 | ENST00000217086.9 | c.645C>T | p.Leu215= | synonymous_variant | 2/4 | 1 | NM_020436.5 | P1 | |
SALL4 | ENST00000395997.3 | c.645C>T | p.Leu215= | synonymous_variant | 2/4 | 1 | |||
SALL4 | ENST00000371539.7 | c.131-2697C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000211 AC: 53AN: 250948Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135738
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461782Hom.: 0 Cov.: 89 AF XY: 0.0000454 AC XY: 33AN XY: 727200
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at