6-131462640-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 0.747 in 152,058 control chromosomes in the GnomAD database, including 43,846 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 0.75 ( 43846 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.323
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 (SAS) allele frequency at 95% confidence interval = 0.885 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:
0.747
AC:
113474
AN:
151940
Hom.:
43834
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.527
Gnomad AMI
AF:
0.863
Gnomad AMR
AF:
0.791
Gnomad ASJ
AF:
0.820
Gnomad EAS
AF:
0.865
Gnomad SAS
AF:
0.909
Gnomad FIN
AF:
0.829
Gnomad MID
AF:
0.775
Gnomad NFE
AF:
0.832
Gnomad OTH
AF:
0.740
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.747
AC:
113528
AN:
152058
Hom.:
43846
Cov.:
31
AF XY:
0.751
AC XY:
55824
AN XY:
74350
show subpopulations
Gnomad4 AFR
AF:
0.526
Gnomad4 AMR
AF:
0.791
Gnomad4 ASJ
AF:
0.820
Gnomad4 EAS
AF:
0.865
Gnomad4 SAS
AF:
0.907
Gnomad4 FIN
AF:
0.829
Gnomad4 NFE
AF:
0.832
Gnomad4 OTH
AF:
0.742
Alfa
AF:
0.765
Hom.:
2609
Bravo
AF:
0.731

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.94
DANN
Benign
0.41

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: rs2608951; hg19: chr6-131783780; API