chr2-70836812-C-T

Variant summary

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

The variant allele was found at a frequency of 0.151 in 152,122 control chromosomes in the GnomAD database, including 1,820 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 0.15 ( 1820 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.32
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.182 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.151
AC:
22927
AN:
152004
Hom.:
1824
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.161
Gnomad AMI
AF:
0.0691
Gnomad AMR
AF:
0.188
Gnomad ASJ
AF:
0.184
Gnomad EAS
AF:
0.151
Gnomad SAS
AF:
0.164
Gnomad FIN
AF:
0.182
Gnomad MID
AF:
0.165
Gnomad NFE
AF:
0.130
Gnomad OTH
AF:
0.143
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.151
AC:
22931
AN:
152122
Hom.:
1820
Cov.:
32
AF XY:
0.153
AC XY:
11368
AN XY:
74346
show subpopulations
Gnomad4 AFR
AF:
0.161
Gnomad4 AMR
AF:
0.188
Gnomad4 ASJ
AF:
0.184
Gnomad4 EAS
AF:
0.151
Gnomad4 SAS
AF:
0.163
Gnomad4 FIN
AF:
0.182
Gnomad4 NFE
AF:
0.130
Gnomad4 OTH
AF:
0.141
Alfa
AF:
0.128
Hom.:
1515
Bravo
AF:
0.154
Asia WGS
AF:
0.189
AC:
653
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.086
DANN
Benign
0.67

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: rs4852708; hg19: chr2-71063942; API