6-31516906-G-C

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 0.812 in 151,100 control chromosomes in the GnomAD database, including 49,902 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 0.81 ( 49902 hom., cov: 28)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.334
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=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.873 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

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

Frequencies

GnomAD3 genomes
AF:
0.812
AC:
122602
AN:
150988
Hom.:
49861
Cov.:
28
show subpopulations
Gnomad AFR
AF:
0.846
Gnomad AMI
AF:
0.709
Gnomad AMR
AF:
0.838
Gnomad ASJ
AF:
0.907
Gnomad EAS
AF:
0.895
Gnomad SAS
AF:
0.849
Gnomad FIN
AF:
0.827
Gnomad MID
AF:
0.881
Gnomad NFE
AF:
0.771
Gnomad OTH
AF:
0.817
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.812
AC:
122693
AN:
151100
Hom.:
49902
Cov.:
28
AF XY:
0.816
AC XY:
60195
AN XY:
73764
show subpopulations
Gnomad4 AFR
AF:
0.845
Gnomad4 AMR
AF:
0.839
Gnomad4 ASJ
AF:
0.907
Gnomad4 EAS
AF:
0.895
Gnomad4 SAS
AF:
0.850
Gnomad4 FIN
AF:
0.827
Gnomad4 NFE
AF:
0.771
Gnomad4 OTH
AF:
0.818
Alfa
AF:
0.789
Hom.:
5931
Bravo
AF:
0.814
Asia WGS
AF:
0.811
AC:
2819
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
0.93
DANN
Benign
0.28

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: rs3131631; hg19: chr6-31484683; API