chr7-134295077-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032826.5(SLC35B4):c.752A>G(p.Tyr251Cys) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000496 in 1,613,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032826.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC35B4 | NM_032826.5 | c.752A>G | p.Tyr251Cys | missense_variant, splice_region_variant | 10/10 | ENST00000378509.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC35B4 | ENST00000378509.9 | c.752A>G | p.Tyr251Cys | missense_variant, splice_region_variant | 10/10 | 1 | NM_032826.5 | P1 | |
SLC35B4 | ENST00000416907.5 | c.*303A>G | splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | 9/9 | 1 | ||||
SLC35B4 | ENST00000466599.1 | n.98+3A>G | splice_donor_region_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250790Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135594
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461518Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727028
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 31, 2023 | The c.752A>G (p.Y251C) alteration is located in exon 10 (coding exon 10) of the SLC35B4 gene. This alteration results from a A to G substitution at nucleotide position 752, causing the tyrosine (Y) at amino acid position 251 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