4-139539149-C-T

Variant summary

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

The NM_030648.4(SETD7):​c.171-5783G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.798 in 152,012 control chromosomes in the GnomAD database, including 48,558 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 ( 48558 hom., cov: 31)

Consequence

SETD7
NM_030648.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0520
Variant links:
Genes affected
SETD7 (HGNC:30412): (SET domain containing 7, histone lysine methyltransferase) Enables histone-lysine N-methyltransferase activity and p53 binding activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within cellular response to DNA damage stimulus and heterochromatin organization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.0).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.822 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
SETD7NM_030648.4 linkuse as main transcriptc.171-5783G>A intron_variant ENST00000274031.8 NP_085151.1 Q8WTS6
SETD7NM_001306199.2 linkuse as main transcriptc.171-5783G>A intron_variant NP_001293128.1 Q8WTS6D6RJA0
SETD7NM_001306200.2 linkuse as main transcriptc.171-5783G>A intron_variant NP_001293129.1 B5MCZ8
SETD7NR_131339.2 linkuse as main transcriptn.354-5783G>A intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
SETD7ENST00000274031.8 linkuse as main transcriptc.171-5783G>A intron_variant 1 NM_030648.4 ENSP00000274031.3 Q8WTS6

Frequencies

GnomAD3 genomes
AF:
0.799
AC:
121291
AN:
151894
Hom.:
48525
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.805
Gnomad AMI
AF:
0.909
Gnomad AMR
AF:
0.834
Gnomad ASJ
AF:
0.898
Gnomad EAS
AF:
0.576
Gnomad SAS
AF:
0.834
Gnomad FIN
AF:
0.782
Gnomad MID
AF:
0.841
Gnomad NFE
AF:
0.797
Gnomad OTH
AF:
0.800
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.798
AC:
121380
AN:
152012
Hom.:
48558
Cov.:
31
AF XY:
0.797
AC XY:
59184
AN XY:
74292
show subpopulations
Gnomad4 AFR
AF:
0.804
Gnomad4 AMR
AF:
0.834
Gnomad4 ASJ
AF:
0.898
Gnomad4 EAS
AF:
0.576
Gnomad4 SAS
AF:
0.833
Gnomad4 FIN
AF:
0.782
Gnomad4 NFE
AF:
0.797
Gnomad4 OTH
AF:
0.800
Alfa
AF:
0.798
Hom.:
93357
Bravo
AF:
0.802
Asia WGS
AF:
0.714
AC:
2483
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
1.7
DANN
Benign
0.43

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs2725790; hg19: chr4-140460303; API