rs336284

Variant names:

• chr7-35254361-A-G
• rs336284

Your query was ambiguous. Multiple possible variants found:

• chr7-35254361-A-G
• chr7-35254361-A-T

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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 CliVar 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.517 AC: 21461 AN: 41536

American (AMR) AF: 0.562 AC: 8604 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.451 AC: 1564 AN: 3468

East Asian (EAS) AF: 0.496 AC: 2552 AN: 5148

South Asian (SAS) AF: 0.525 AC: 2531 AN: 4818

European-Finnish (FIN) AF: 0.568 AC: 6020 AN: 10590

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.529 AC: 35929 AN: 67970

Other (OTH) AF: 0.501 AC: 1058 AN: 2110

Alfa AF: 0.523 Hom.: 23590

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

Sep 04, 2018

GeneDx

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	4.5
DANN	Benign	0.28
PhyloP100		-0.94
PromoterAI		0.027	Neutral

Splicing

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

Other links and lift over

dbSNP: rs336284; hg19: chr7-35293972;