chr12-57626891-G-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001478.5(B4GALNT1):āc.1455C>Gā(p.Ser485=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000578 in 1,614,192 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. S485S) has been classified as Likely benign.
Frequency
Consequence
NM_001478.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
B4GALNT1 | NM_001478.5 | c.1455C>G | p.Ser485= | synonymous_variant | 11/11 | ENST00000341156.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
B4GALNT1 | ENST00000341156.9 | c.1455C>G | p.Ser485= | synonymous_variant | 11/11 | 1 | NM_001478.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00304 AC: 462AN: 152186Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000824 AC: 207AN: 251198Hom.: 1 AF XY: 0.000633 AC XY: 86AN XY: 135816
GnomAD4 exome AF: 0.000322 AC: 470AN: 1461888Hom.: 3 Cov.: 31 AF XY: 0.000275 AC XY: 200AN XY: 727244
GnomAD4 genome AF: 0.00304 AC: 463AN: 152304Hom.: 1 Cov.: 32 AF XY: 0.00283 AC XY: 211AN XY: 74470
ClinVar
Submissions by phenotype
Spastic paraplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 18, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 24, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at