Variant rs7044355 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 0.581 in 151,800 control chromosomes in the GnomAD database, including 26,363 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 0.58 ( 26363 hom., cov: 30)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.539

Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.94).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.714 is higher than 0.05.

Transcripts

RefSeq

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

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.581

AC:

88135

AN:

151682

Hom.:

26304

Cov.:

show subpopulations

Gnomad AFR

AF:

0.720

Gnomad AMI

AF:

0.608

Gnomad AMR

AF:

0.532

Gnomad ASJ

AF:

0.549

Gnomad EAS

AF:

0.636

Gnomad SAS

AF:

0.519

Gnomad FIN

AF:

0.580

Gnomad MID

AF:

0.535

Gnomad NFE

AF:

0.510

Gnomad OTH

AF:

0.563

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

GnomAD4 genome

AF:

0.581

AC:

88255

AN:

151800

Hom.:

26363

Cov.:

AF XY:

0.582

AC XY:

43148

AN XY:

74158

show subpopulations

Gnomad4 AFR

AF:

0.721

Gnomad4 AMR

AF:

0.532

Gnomad4 ASJ

AF:

0.549

Gnomad4 EAS

AF:

0.637

Gnomad4 SAS

AF:

0.520

Gnomad4 FIN

AF:

0.580

Gnomad4 NFE

AF:

0.510

Gnomad4 OTH

AF:

0.567

Alfa

AF:

0.517

Hom.:

46886

Bravo

AF:

0.584

Asia WGS

AF:

0.611

AC:

2127

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.94

CADD

Benign

0.48

DANN

Benign

0.54

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