chr5-128966361-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001017372.3(SLC27A6):āc.224A>Gā(p.Tyr75Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,732 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001017372.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC27A6 | NM_001017372.3 | c.224A>G | p.Tyr75Cys | missense_variant | 1/10 | ENST00000262462.9 | NP_001017372.1 | |
SLC27A6 | NM_001317984.2 | c.224A>G | p.Tyr75Cys | missense_variant | 2/11 | NP_001304913.1 | ||
SLC27A6 | NM_014031.5 | c.224A>G | p.Tyr75Cys | missense_variant | 2/11 | NP_054750.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC27A6 | ENST00000262462.9 | c.224A>G | p.Tyr75Cys | missense_variant | 1/10 | 1 | NM_001017372.3 | ENSP00000262462.4 | ||
SLC27A6 | ENST00000395266.5 | c.224A>G | p.Tyr75Cys | missense_variant | 2/11 | 1 | ENSP00000378684.1 | |||
SLC27A6 | ENST00000506176.1 | c.224A>G | p.Tyr75Cys | missense_variant | 2/11 | 1 | ENSP00000421024.1 | |||
SLC27A6 | ENST00000508645.5 | c.-62-18772A>G | intron_variant | 5 | ENSP00000421759.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461732Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727160
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2021 | The c.224A>G (p.Y75C) alteration is located in exon 1 (coding exon 1) of the SLC27A6 gene. This alteration results from a A to G substitution at nucleotide position 224, causing the tyrosine (Y) at amino acid position 75 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.