chr12-57624885-T-G

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

Scores

2
10
7

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 2.75
Variant links:
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
B4GALNT1NM_001478.5 linkuse as main transcriptc.*1859A>C 3_prime_UTR_variant 11/11 ENST00000341156.9
SLC26A10PNR_166679.1 linkuse as main transcriptn.2048T>G non_coding_transcript_exon_variant 11/16

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
B4GALNT1ENST00000341156.9 linkuse as main transcriptc.*1859A>C 3_prime_UTR_variant 11/111 NM_001478.5 P1Q00973-1
ENST00000440686.5 linkuse as main transcriptn.1226T>G non_coding_transcript_exon_variant 11/162
SLC26A10PENST00000665594.1 linkuse as main transcriptn.1655T>G non_coding_transcript_exon_variant 13/18

Frequencies

GnomAD3 genomes
AF:
0.00590
AC:
898
AN:
152120
Hom.:
2
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00469
Gnomad AMI
AF:
0.0186
Gnomad AMR
AF:
0.00838
Gnomad ASJ
AF:
0.00461
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00311
Gnomad FIN
AF:
0.00254
Gnomad MID
AF:
0.0222
Gnomad NFE
AF:
0.00701
Gnomad OTH
AF:
0.00815
GnomAD3 exomes
AF:
0.00522
AC:
1312
AN:
251444
Hom.:
10
AF XY:
0.00530
AC XY:
720
AN XY:
135888
show subpopulations
Gnomad AFR exome
AF:
0.00431
Gnomad AMR exome
AF:
0.00520
Gnomad ASJ exome
AF:
0.00486
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00261
Gnomad FIN exome
AF:
0.00268
Gnomad NFE exome
AF:
0.00730
Gnomad OTH exome
AF:
0.00734
GnomAD4 exome
AF:
0.00608
AC:
8893
AN:
1461864
Hom.:
34
Cov.:
32
AF XY:
0.00601
AC XY:
4370
AN XY:
727236
show subpopulations
Gnomad4 AFR exome
AF:
0.00385
Gnomad4 AMR exome
AF:
0.00626
Gnomad4 ASJ exome
AF:
0.00436
Gnomad4 EAS exome
AF:
0.0000504
Gnomad4 SAS exome
AF:
0.00261
Gnomad4 FIN exome
AF:
0.00294
Gnomad4 NFE exome
AF:
0.00675
Gnomad4 OTH exome
AF:
0.00685
GnomAD4 genome
AF:
0.00589
AC:
897
AN:
152238
Hom.:
2
Cov.:
32
AF XY:
0.00565
AC XY:
421
AN XY:
74454
show subpopulations
Gnomad4 AFR
AF:
0.00467
Gnomad4 AMR
AF:
0.00837
Gnomad4 ASJ
AF:
0.00461
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00311
Gnomad4 FIN
AF:
0.00254
Gnomad4 NFE
AF:
0.00701
Gnomad4 OTH
AF:
0.00806
Alfa
AF:
0.00600
Hom.:
7
Bravo
AF:
0.00629
TwinsUK
AF:
0.00674
AC:
25
ALSPAC
AF:
0.00545
AC:
21
ESP6500AA
AF:
0.00409
AC:
18
ESP6500EA
AF:
0.00686
AC:
59
ExAC
AF:
0.00537
AC:
652
Asia WGS
AF:
0.00115
AC:
4
AN:
3478
EpiCase
AF:
0.00889
EpiControl
AF:
0.00806

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 submitterclinical testingCeGaT Center for Human Genetics TuebingenNov 01, 2022SLC26A10P: BS2 -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
0.57
BayesDel_addAF
Benign
-0.14
T
BayesDel_noAF
Uncertain
0.030
CADD
Benign
19
DANN
Benign
0.96
DEOGEN2
Benign
0.27
T
Eigen
Uncertain
0.29
Eigen_PC
Uncertain
0.34
FATHMM_MKL
Uncertain
0.92
D
LIST_S2
Benign
0.72
T
M_CAP
Benign
0.080
D
MetaRNN
Benign
0.046
T
MetaSVM
Uncertain
0.39
D
MutationAssessor
Uncertain
2.7
M
MutationTaster
Benign
0.57
N;N
PrimateAI
Uncertain
0.49
T
PROVEAN
Uncertain
-3.5
D
REVEL
Pathogenic
0.70
Sift
Uncertain
0.0070
D
Sift4G
Uncertain
0.0040
D
Polyphen
1.0
D
Vest4
0.87
MVP
0.70
MPC
0.74
ClinPred
0.023
T
GERP RS
3.6
Varity_R
0.63
gMVP
0.75

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs111924104; hg19: chr12-58018668; COSMIC: COSV57545301; COSMIC: COSV57545301; API