chr12-57624885-T-G
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001478.5(B4GALNT1):c.*1859A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00607 in 1,614,102 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0059 ( 2 hom., cov: 32)
Exomes 𝑓: 0.0061 ( 34 hom. )
Consequence
B4GALNT1
NM_001478.5 3_prime_UTR
NM_001478.5 3_prime_UTR
Scores
2
10
7
Clinical Significance
Conservation
PhyloP100: 2.75
Genes affected
B4GALNT1 (HGNC:4117): (beta-1,4-N-acetyl-galactosaminyltransferase 1) GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
SLC26A10P (HGNC:14470): (solute carrier family 26 member 10, pseudogene) Predicted to enable anion transmembrane transporter activity. Predicted to be involved in anion transport. Predicted to be active in basolateral plasma membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.045810133).
BP6
Variant 12-57624885-T-G is Benign according to our data. Variant chr12-57624885-T-G is described in ClinVar as [Likely_benign]. Clinvar id is 2643143.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.00589 (897/152238) while in subpopulation AMR AF= 0.00837 (128/15300). AF 95% confidence interval is 0.00719. There are 2 homozygotes in gnomad4. There are 421 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 2 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
B4GALNT1 | NM_001478.5 | c.*1859A>C | 3_prime_UTR_variant | 11/11 | ENST00000341156.9 | ||
SLC26A10P | NR_166679.1 | n.2048T>G | non_coding_transcript_exon_variant | 11/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
B4GALNT1 | ENST00000341156.9 | c.*1859A>C | 3_prime_UTR_variant | 11/11 | 1 | NM_001478.5 | P1 | ||
ENST00000440686.5 | n.1226T>G | non_coding_transcript_exon_variant | 11/16 | 2 | |||||
SLC26A10P | ENST00000665594.1 | n.1655T>G | non_coding_transcript_exon_variant | 13/18 |
Frequencies
GnomAD3 genomes AF: 0.00590 AC: 898AN: 152120Hom.: 2 Cov.: 32
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GnomAD3 exomes AF: 0.00522 AC: 1312AN: 251444Hom.: 10 AF XY: 0.00530 AC XY: 720AN XY: 135888
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GnomAD4 exome AF: 0.00608 AC: 8893AN: 1461864Hom.: 34 Cov.: 32 AF XY: 0.00601 AC XY: 4370AN XY: 727236
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GnomAD4 genome AF: 0.00589 AC: 897AN: 152238Hom.: 2 Cov.: 32 AF XY: 0.00565 AC XY: 421AN XY: 74454
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2022 | SLC26A10P: BS2 - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Uncertain
CADD
Benign
DANN
Benign
DEOGEN2
Benign
T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T
M_CAP
Benign
D
MetaRNN
Benign
T
MetaSVM
Uncertain
D
MutationAssessor
Uncertain
M
MutationTaster
Benign
N;N
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D
REVEL
Pathogenic
Sift
Uncertain
D
Sift4G
Uncertain
D
Polyphen
D
Vest4
MVP
MPC
ClinPred
T
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at