6-89141287-A-C

Variant summary

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

The ENST00000657573.1(ENSG00000288009):​n.380+2460T>G 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 0.362 in 152,068 control chromosomes in the GnomAD database, including 10,943 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 0.36 ( 10943 hom., cov: 32)

Consequence


ENST00000657573.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.383
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=-0.97).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.529 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
LOC101929004XR_942766.4 linkuse as main transcriptn.1261+2460T>G intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ENST00000657573.1 linkuse as main transcriptn.380+2460T>G intron_variant, non_coding_transcript_variant
ENST00000664569.1 linkuse as main transcriptn.333+2460T>G intron_variant, non_coding_transcript_variant
ENST00000665193.1 linkuse as main transcriptn.431+2379T>G intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
AF:
0.361
AC:
54923
AN:
151950
Hom.:
10890
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.534
Gnomad AMI
AF:
0.258
Gnomad AMR
AF:
0.366
Gnomad ASJ
AF:
0.337
Gnomad EAS
AF:
0.258
Gnomad SAS
AF:
0.242
Gnomad FIN
AF:
0.286
Gnomad MID
AF:
0.304
Gnomad NFE
AF:
0.286
Gnomad OTH
AF:
0.359
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.362
AC:
55041
AN:
152068
Hom.:
10943
Cov.:
32
AF XY:
0.356
AC XY:
26452
AN XY:
74332
show subpopulations
Gnomad4 AFR
AF:
0.535
Gnomad4 AMR
AF:
0.366
Gnomad4 ASJ
AF:
0.337
Gnomad4 EAS
AF:
0.258
Gnomad4 SAS
AF:
0.241
Gnomad4 FIN
AF:
0.286
Gnomad4 NFE
AF:
0.286
Gnomad4 OTH
AF:
0.367
Alfa
AF:
0.338
Hom.:
1604
Bravo
AF:
0.381
Asia WGS
AF:
0.301
AC:
1047
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
5.4
DANN
Benign
0.55

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: rs4707518; hg19: chr6-89851006; API