11-44095958-C-T
Variant names:
Variant summary
Our verdict is Benign. The variant received -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_207122.2(EXT2):c.-31+106C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00558 in 427,184 control chromosomes in the GnomAD database, including 43 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0099 ( 28 hom., cov: 32)
Exomes 𝑓: 0.0032 ( 15 hom. )
Consequence
EXT2
NM_207122.2 intron
NM_207122.2 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.299
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 was made for transcript
Our verdict: Benign. The variant received -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BP6
Variant 11-44095958-C-T is Benign according to our data. Variant chr11-44095958-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 1321817.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
Variant frequency is greater than expected in population afr. GnomAd4 allele frequency = 0.00988 (1504/152200) while in subpopulation AFR AF = 0.0332 (1379/41554). AF 95% confidence interval is 0.0317. There are 28 homozygotes in GnomAd4. There are 751 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position FAILED quality control check.
BS2
High AC in GnomAd4 at 1504 AD gene.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00984 AC: 1497AN: 152088Hom.: 28 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
1497
AN:
152088
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.00320 AC: 880AN: 274984Hom.: 15 AF XY: 0.00382 AC XY: 566AN XY: 148056 show subpopulations
GnomAD4 exome
AF:
AC:
880
AN:
274984
Hom.:
AF XY:
AC XY:
566
AN XY:
148056
Gnomad4 AFR exome
AF:
AC:
216
AN:
6368
Gnomad4 AMR exome
AF:
AC:
24
AN:
11444
Gnomad4 ASJ exome
AF:
AC:
0
AN:
7728
Gnomad4 EAS exome
AF:
AC:
74
AN:
14138
Gnomad4 SAS exome
AF:
AC:
466
AN:
43384
Gnomad4 FIN exome
AF:
AC:
1
AN:
14634
Gnomad4 NFE exome
AF:
AC:
33
AN:
160968
Gnomad4 Remaining exome
AF:
AC:
64
AN:
15188
Heterozygous variant carriers
0
42
83
125
166
208
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
10
20
30
40
50
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
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>80
Age
GnomAD4 genome AF: 0.00988 AC: 1504AN: 152200Hom.: 28 Cov.: 32 AF XY: 0.0101 AC XY: 751AN XY: 74422 show subpopulations
GnomAD4 genome
AF:
AC:
1504
AN:
152200
Hom.:
Cov.:
32
AF XY:
AC XY:
751
AN XY:
74422
Gnomad4 AFR
AF:
AC:
0.0331857
AN:
0.0331857
Gnomad4 AMR
AF:
AC:
0.00248334
AN:
0.00248334
Gnomad4 ASJ
AF:
AC:
0
AN:
0
Gnomad4 EAS
AF:
AC:
0.00232829
AN:
0.00232829
Gnomad4 SAS
AF:
AC:
0.0101533
AN:
0.0101533
Gnomad4 FIN
AF:
AC:
0
AN:
0
Gnomad4 NFE
AF:
AC:
0.000117685
AN:
0.000117685
Gnomad4 OTH
AF:
AC:
0.00709555
AN:
0.00709555
Heterozygous variant carriers
0
73
146
219
292
365
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
20
40
60
80
100
<30
30-35
35-40
40-45
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50-55
55-60
60-65
65-70
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75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
25
AN:
3476
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
May 12, 2021
GeneDx
Significance:Likely benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Mutation Taster
=100/0
polymorphism
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at