chr1-76412415-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152996.4(ST6GALNAC3):c.621C>G(p.Asp207Glu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152996.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ST6GALNAC3 | ENST00000328299.4 | c.621C>G | p.Asp207Glu | missense_variant, splice_region_variant | Exon 3 of 5 | 1 | NM_152996.4 | ENSP00000329214.3 | ||
ST6GALNAC3 | ENST00000464140.1 | n.495C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.621C>G (p.D207E) alteration is located in exon 4 (coding exon 4) of the ST6GALNAC3 gene. This alteration results from a C to G substitution at nucleotide position 621, causing the aspartic acid (D) at amino acid position 207 to be replaced by a glutamic acid (E). 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.