17-4938220-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_003562.5(SLC25A11):c.671G>A(p.Cys224Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000886 in 1,613,840 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003562.5 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC25A11 | NM_003562.5 | c.671G>A | p.Cys224Tyr | missense_variant | Exon 6 of 8 | ENST00000225665.12 | NP_003553.2 | |
SLC25A11 | NM_001165417.2 | c.638G>A | p.Cys213Tyr | missense_variant | Exon 6 of 8 | NP_001158889.1 | ||
SLC25A11 | NM_001165418.2 | c.518G>A | p.Cys173Tyr | missense_variant | Exon 5 of 7 | NP_001158890.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000196 AC: 49AN: 250414Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135424
GnomAD4 exome AF: 0.0000883 AC: 129AN: 1461654Hom.: 0 Cov.: 33 AF XY: 0.0000853 AC XY: 62AN XY: 727106
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.671G>A (p.C224Y) alteration is located in exon 6 (coding exon 6) of the SLC25A11 gene. This alteration results from a G to A substitution at nucleotide position 671, causing the cysteine (C) at amino acid position 224 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at