rs6753473

Positions:

• chr2-26303551-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000653720.1(ENSG00000286707):​n.58-280T>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0922 in 152,082 control chromosomes in the GnomAD database, including 1,478 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 0.092 (1478 hom., cov: 32)
• Consequence: ENST00000653720.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.166

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.257 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC105374334	XR_007086250.1	n.886-280T>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
	ENST00000653720.1	n.58-280T>G		intron_variant, non_coding_transcript_variant
	ENST00000661577.1	n.216-280T>G		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0921 AC: 13998 AN: 151964 Hom.: 1477 Cov.: 32

Gnomad AFR AF: 0.262

Gnomad AMI AF: 0.0461

Gnomad AMR AF: 0.0482

Gnomad ASJ AF: 0.0233

Gnomad EAS AF: 0.0512

Gnomad SAS AF: 0.0274

Gnomad FIN AF: 0.00727

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0250

Gnomad OTH AF: 0.0679

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

GnomAD4 genome AF: 0.0922 AC: 14019 AN: 152082 Hom.: 1478 Cov.: 32 AF XY: 0.0897 AC XY: 6670 AN XY: 74352

Gnomad4 AFR AF: 0.261

Gnomad4 AMR AF: 0.0483

Gnomad4 ASJ AF: 0.0233

Gnomad4 EAS AF: 0.0514

Gnomad4 SAS AF: 0.0272

Gnomad4 FIN AF: 0.00727

Gnomad4 NFE AF: 0.0250

Gnomad4 OTH AF: 0.0668

Alfa AF: 0.0562 Hom.: 139

Bravo AF: 0.105

Asia WGS AF: 0.0540 AC: 190 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.2
DANN	Benign	0.17

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6753473; hg19: chr2-26526419;