16-62764948-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The XR_933661.3(LOC102723560):​n.94-4044G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.772 in 152,078 control chromosomes in the GnomAD database, including 45,640 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.77 ( 45640 hom., cov: 32)

Consequence

LOC102723560
XR_933661.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0430
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.815 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LOC102723560XR_933661.3 linkn.94-4044G>T intron_variant Intron 2 of 3
LOC102723560XR_933663.3 linkn.221-4044G>T intron_variant Intron 2 of 3

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.772
AC:
117356
AN:
151960
Hom.:
45599
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.823
Gnomad AMI
AF:
0.857
Gnomad AMR
AF:
0.644
Gnomad ASJ
AF:
0.639
Gnomad EAS
AF:
0.656
Gnomad SAS
AF:
0.764
Gnomad FIN
AF:
0.844
Gnomad MID
AF:
0.697
Gnomad NFE
AF:
0.775
Gnomad OTH
AF:
0.756
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.772
AC:
117448
AN:
152078
Hom.:
45640
Cov.:
32
AF XY:
0.772
AC XY:
57425
AN XY:
74342
show subpopulations
Gnomad4 AFR
AF:
0.823
Gnomad4 AMR
AF:
0.644
Gnomad4 ASJ
AF:
0.639
Gnomad4 EAS
AF:
0.655
Gnomad4 SAS
AF:
0.764
Gnomad4 FIN
AF:
0.844
Gnomad4 NFE
AF:
0.775
Gnomad4 OTH
AF:
0.755
Alfa
AF:
0.773
Hom.:
19914
Bravo
AF:
0.759
Asia WGS
AF:
0.704
AC:
2443
AN:
3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
3.0
DANN
Benign
0.48

Splicing

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: rs2962462; hg19: chr16-62798852; API