rs17235409
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000578.4(SLC11A1):c.1627G>A(p.Asp543Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0284 in 1,609,430 control chromosomes in the GnomAD database, including 1,304 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 risk factor (no stars).
Frequency
Consequence
NM_000578.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0412 AC: 6263AN: 152186Hom.: 197 Cov.: 33
GnomAD3 exomes AF: 0.0491 AC: 11852AN: 241194Hom.: 554 AF XY: 0.0454 AC XY: 5936AN XY: 130718
GnomAD4 exome AF: 0.0271 AC: 39430AN: 1457126Hom.: 1109 Cov.: 32 AF XY: 0.0273 AC XY: 19758AN XY: 724476
GnomAD4 genome AF: 0.0411 AC: 6266AN: 152304Hom.: 195 Cov.: 33 AF XY: 0.0428 AC XY: 3185AN XY: 74470
ClinVar
Submissions by phenotype
Buruli ulcer, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2006 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at