chr20-3227844-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBP6_ModerateBP7BS2_Supporting
The NM_001174089.2(SLC4A11):c.2571G>A(p.Leu857Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,460,748 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L857L) has been classified as Likely benign.
Frequency
Consequence
NM_001174089.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248844Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134776
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460748Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 726578
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at