rs336284

chr7-35254361-A-Gchr7-35254361-A-T

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 0.528 in 152,138 control chromosomes in the GnomAD database, including 21,317 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.53 (21317 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.943

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BP6: Variant 7-35254361-A-G is Benign according to our data. Variant chr7-35254361-A-G is described in ClinVar as [Benign]. Clinvar id is 1235355.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.552 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: 0.528 AC: 80220 AN: 152022 Hom.: 21292 Cov.: 34

Gnomad AFR AF: 0.516

Gnomad AMI AF: 0.497

Gnomad AMR AF: 0.562

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.497

Gnomad SAS AF: 0.525

Gnomad FIN AF: 0.568

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.529

Gnomad OTH AF: 0.500

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

GnomAD4 genome AF: 0.528 AC: 80292 AN: 152138 Hom.: 21317 Cov.: 34 AF XY: 0.532 AC XY: 39543 AN XY: 74362

Gnomad4 AFR AF: 0.517

Gnomad4 AMR AF: 0.562

Gnomad4 ASJ AF: 0.451

Gnomad4 EAS AF: 0.496

Gnomad4 SAS AF: 0.525

Gnomad4 FIN AF: 0.568

Gnomad4 NFE AF: 0.529

Gnomad4 OTH AF: 0.501

Alfa AF: 0.523 Hom.: 18007

Bravo AF: 0.525

Asia WGS AF: 0.520 AC: 1812 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

Sep 04, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	4.5
Dann	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs336284; hg19: chr7-35293972;