rs744751

chr3-30694445-G-A

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.227 in 152,070 control chromosomes in the GnomAD database, including 4,773 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.23 (4773 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -1.07

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BP6: Variant 3-30694445-G-A is Benign according to our data. Variant chr3-30694445-G-A is described in ClinVar as [Benign]. Clinvar id is 1170531.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.312 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.227 AC: 34497 AN: 151952 Hom.: 4777 Cov.: 32

Gnomad AFR AF: 0.0960

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.151

Gnomad ASJ AF: 0.169

Gnomad EAS AF: 0.0946

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.397

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.316

Gnomad OTH AF: 0.215

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

GnomAD4 genome AF: 0.227 AC: 34486 AN: 152070 Hom.: 4773 Cov.: 32 AF XY: 0.228 AC XY: 16914 AN XY: 74308

Gnomad4 AFR AF: 0.0959

Gnomad4 AMR AF: 0.151

Gnomad4 ASJ AF: 0.169

Gnomad4 EAS AF: 0.0942

Gnomad4 SAS AF: 0.170

Gnomad4 FIN AF: 0.397

Gnomad4 NFE AF: 0.316

Gnomad4 OTH AF: 0.212

Alfa AF: 0.287 Hom.: 12526

Bravo AF: 0.203

Asia WGS AF: 0.143 AC: 498 AN: 3476

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Familial thoracic aortic aneurysm and aortic dissection Benign:1

Benign, criteria provided, single submitter

clinical testing

Invitae

Jan 19, 2024

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
Cadd	Benign	0.0080
Dann	Benign	0.41

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs744751; hg19: chr3-30735937;