chr11-44096348-T-G

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_207122.2(EXT2):​c.-31+496T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.717 in 1,531,358 control chromosomes in the GnomAD database, including 395,996 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.71 ( 37746 hom., cov: 28)
Exomes 𝑓: 0.72 ( 358250 hom. )

Consequence

EXT2
NM_207122.2 intron

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -1.96
Variant links:
Genes affected
EXT2 (HGNC:3513): (exostosin glycosyltransferase 2) This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BP6
Variant 11-44096348-T-G is Benign according to our data. Variant chr11-44096348-T-G is described in ClinVar as [Benign]. Clinvar id is 1287445.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr11-44096348-T-G is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.889 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
EXT2NM_207122.2 linkuse as main transcriptc.-31+496T>G intron_variant ENST00000533608.7

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
EXT2ENST00000533608.7 linkuse as main transcriptc.-31+496T>G intron_variant 1 NM_207122.2 P1Q93063-1

Frequencies

GnomAD3 genomes
AF:
0.706
AC:
106253
AN:
150574
Hom.:
37705
Cov.:
28
show subpopulations
Gnomad AFR
AF:
0.615
Gnomad AMI
AF:
0.717
Gnomad AMR
AF:
0.797
Gnomad ASJ
AF:
0.687
Gnomad EAS
AF:
0.911
Gnomad SAS
AF:
0.736
Gnomad FIN
AF:
0.778
Gnomad MID
AF:
0.710
Gnomad NFE
AF:
0.711
Gnomad OTH
AF:
0.712
GnomAD3 exomes
AF:
0.751
AC:
101402
AN:
134962
Hom.:
38648
AF XY:
0.748
AC XY:
54782
AN XY:
73282
show subpopulations
Gnomad AFR exome
AF:
0.608
Gnomad AMR exome
AF:
0.849
Gnomad ASJ exome
AF:
0.686
Gnomad EAS exome
AF:
0.923
Gnomad SAS exome
AF:
0.730
Gnomad FIN exome
AF:
0.762
Gnomad NFE exome
AF:
0.710
Gnomad OTH exome
AF:
0.735
GnomAD4 exome
AF:
0.719
AC:
992320
AN:
1380666
Hom.:
358250
Cov.:
34
AF XY:
0.719
AC XY:
489668
AN XY:
681166
show subpopulations
Gnomad4 AFR exome
AF:
0.604
Gnomad4 AMR exome
AF:
0.844
Gnomad4 ASJ exome
AF:
0.685
Gnomad4 EAS exome
AF:
0.904
Gnomad4 SAS exome
AF:
0.731
Gnomad4 FIN exome
AF:
0.773
Gnomad4 NFE exome
AF:
0.710
Gnomad4 OTH exome
AF:
0.716
GnomAD4 genome
AF:
0.706
AC:
106352
AN:
150692
Hom.:
37746
Cov.:
28
AF XY:
0.713
AC XY:
52456
AN XY:
73610
show subpopulations
Gnomad4 AFR
AF:
0.616
Gnomad4 AMR
AF:
0.798
Gnomad4 ASJ
AF:
0.687
Gnomad4 EAS
AF:
0.911
Gnomad4 SAS
AF:
0.737
Gnomad4 FIN
AF:
0.778
Gnomad4 NFE
AF:
0.711
Gnomad4 OTH
AF:
0.714
Alfa
AF:
0.662
Hom.:
4056
Bravo
AF:
0.701

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxJul 27, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
2.1
DANN
Benign
0.52

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: rs11037860; hg19: chr11-44117898; API