7-33063100-G-C

Position:

• chr7-33063100-G-C

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 0.689 in 152,168 control chromosomes in the GnomAD database, including 36,363 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.69 (36363 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.710

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BP6: Variant 7-33063100-G-C is Benign according to our data. Variant chr7-33063100-G-C is described in ClinVar as [Benign]. Clinvar id is 1225236.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.708 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: 0.689 AC: 104708 AN: 152050 Hom.: 36323 Cov.: 33

Gnomad AFR AF: 0.689

Gnomad AMI AF: 0.502

Gnomad AMR AF: 0.719

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.493

Gnomad SAS AF: 0.603

Gnomad FIN AF: 0.759

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.702

Gnomad OTH AF: 0.664

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

GnomAD4 genome AF: 0.689 AC: 104803 AN: 152168 Hom.: 36363 Cov.: 33 AF XY: 0.690 AC XY: 51299 AN XY: 74370

Gnomad4 AFR AF: 0.689

Gnomad4 AMR AF: 0.719

Gnomad4 ASJ AF: 0.560

Gnomad4 EAS AF: 0.492

Gnomad4 SAS AF: 0.604

Gnomad4 FIN AF: 0.759

Gnomad4 NFE AF: 0.702

Gnomad4 OTH AF: 0.659

Alfa AF: 0.619 Hom.: 1829

Bravo AF: 0.686

Asia WGS AF: 0.543 AC: 1892 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Nov 12, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.46
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10262141; hg19: chr7-33102712;