6-122438270-T-C

Variant summary

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

The ENST00000624649.1(ENSG00000279453):​n.954A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.797 in 152,062 control chromosomes in the GnomAD database, including 48,486 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 0.80 ( 48471 hom., cov: 31)
Exomes 𝑓: 0.84 ( 15 hom. )

Consequence

ENSG00000279453
ENST00000624649.1 non_coding_transcript_exon

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.708
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 (SAS) allele frequency at 95% confidence interval = 0.897 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
ENSG00000279453ENST00000624649.1 linkn.954A>G non_coding_transcript_exon_variant Exon 1 of 1 6

Frequencies

GnomAD3 genomes
AF:
0.797
AC:
121010
AN:
151900
Hom.:
48431
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.732
Gnomad AMI
AF:
0.839
Gnomad AMR
AF:
0.866
Gnomad ASJ
AF:
0.855
Gnomad EAS
AF:
0.841
Gnomad SAS
AF:
0.919
Gnomad FIN
AF:
0.755
Gnomad MID
AF:
0.826
Gnomad NFE
AF:
0.811
Gnomad OTH
AF:
0.800
GnomAD4 exome
AF:
0.841
AC:
37
AN:
44
Hom.:
15
Cov.:
0
AF XY:
0.833
AC XY:
30
AN XY:
36
show subpopulations
Gnomad4 AMR exome
AF:
0.500
Gnomad4 NFE exome
AF:
0.875
Gnomad4 OTH exome
AF:
0.500
GnomAD4 genome
AF:
0.797
AC:
121107
AN:
152018
Hom.:
48471
Cov.:
31
AF XY:
0.797
AC XY:
59209
AN XY:
74280
show subpopulations
Gnomad4 AFR
AF:
0.732
Gnomad4 AMR
AF:
0.866
Gnomad4 ASJ
AF:
0.855
Gnomad4 EAS
AF:
0.841
Gnomad4 SAS
AF:
0.919
Gnomad4 FIN
AF:
0.755
Gnomad4 NFE
AF:
0.811
Gnomad4 OTH
AF:
0.802
Alfa
AF:
0.817
Hom.:
78334
Bravo
AF:
0.800
Asia WGS
AF:
0.860
AC:
2993
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
1.6
DANN
Benign
0.51

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: rs577838; hg19: chr6-122759415; API