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GeneBe

rs11964561

chr6-8169567-G-A

Variant summary

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

The ENST00000642149.1(ENSG00000232234):n.206+22968G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0864 in 151,936 control chromosomes in the GnomAD database, including 1,158 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 0.086 ( 1158 hom., cov: 32)

Consequence


ENST00000642149.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.14
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
?
    BP4 - Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.)
Computational evidence support a benign effect (BayesDel_noAF=-0.74).
BA1
?
    BA1 - Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.223 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
LOC105374910XR_001743950.2 linkuse as main transcriptn.187+1647G>A intron_variant, non_coding_transcript_variant
LOC105374910XR_926440.3 linkuse as main transcriptn.80+11307G>A intron_variant, non_coding_transcript_variant
LOC105374910XR_926441.3 linkuse as main transcriptn.187+1647G>A intron_variant, non_coding_transcript_variant
LOC105374910XR_926443.3 linkuse as main transcriptn.80+11307G>A intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ENST00000642149.1 linkuse as main transcriptn.206+22968G>A intron_variant, non_coding_transcript_variant
ENST00000643749.1 linkuse as main transcriptn.142+66715G>A intron_variant, non_coding_transcript_variant
ENST00000644216.1 linkuse as main transcriptn.954+1647G>A intron_variant, non_coding_transcript_variant
ENST00000647315.1 linkuse as main transcriptn.179+22968G>A intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.0862
AC:
13091
AN:
151818
Hom.:
1151
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.226
Gnomad AMI
AF:
0.0208
Gnomad AMR
AF:
0.0449
Gnomad ASJ
AF:
0.0228
Gnomad EAS
AF:
0.0349
Gnomad SAS
AF:
0.0210
Gnomad FIN
AF:
0.0205
Gnomad MID
AF:
0.0605
Gnomad NFE
AF:
0.0340
Gnomad OTH
AF:
0.0705
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.0864
AC:
13127
AN:
151936
Hom.:
1158
Cov.:
32
AF XY:
0.0833
AC XY:
6186
AN XY:
74230
show subpopulations
Gnomad4 AFR
AF:
0.227
Gnomad4 AMR
AF:
0.0448
Gnomad4 ASJ
AF:
0.0228
Gnomad4 EAS
AF:
0.0350
Gnomad4 SAS
AF:
0.0206
Gnomad4 FIN
AF:
0.0205
Gnomad4 NFE
AF:
0.0340
Gnomad4 OTH
AF:
0.0697
Alfa
AF:
0.0522
Hom.:
181
Bravo
AF:
0.0938
Asia WGS
AF:
0.0430
AC:
150
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.74
Cadd
Benign
9.6
Dann
Benign
0.68

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: rs11964561; hg19: chr6-8169800; API