Variant 6-50992603-T-C details in Genebe, Genetics Data Aggregator

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 0.283 in 152,050 control chromosomes in the GnomAD database, including 6,537 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 0.28 ( 6537 hom., cov: 33)

Consequence

intergenic_region

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.176

Variant links:

Genes affected

(HGNC:):

links:

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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=-0.85).

BA1

GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.338 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
	use as main transcript	n.50992603T>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes

AF:

0.283

AC:

42978

AN:

151932

Hom.:

6540

Cov.:

show subpopulations

Gnomad AFR

AF:

0.178

Gnomad AMI

AF:

0.202

Gnomad AMR

AF:

0.346

Gnomad ASJ

AF:

0.249

Gnomad EAS

AF:

0.219

Gnomad SAS

AF:

0.314

Gnomad FIN

AF:

0.285

Gnomad MID

AF:

0.206

Gnomad NFE

AF:

0.339

Gnomad OTH

AF:

0.265

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

AF:

0.283

AC:

42984

AN:

152050

Hom.:

6537

Cov.:

AF XY:

0.280

AC XY:

20797

AN XY:

74324

show subpopulations

Gnomad4 AFR

AF:

0.177

Gnomad4 AMR

AF:

0.346

Gnomad4 ASJ

AF:

0.249

Gnomad4 EAS

AF:

0.219

Gnomad4 SAS

AF:

0.314

Gnomad4 FIN

AF:

0.285

Gnomad4 NFE

AF:

0.339

Gnomad4 OTH

AF:

0.262

Alfa

AF:

0.324

Hom.:

13231

Bravo

AF:

0.283

Asia WGS

AF:

0.295

AC:

1027

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.85

CADD

Benign

0.84

DANN

Benign

0.73

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over