rs11269962

chr7-128935743-TCTTAGCTATTGCTC-Tchr7-128935743-TCTTAGCTATTGCTC-TCTTAGCTATTGCTCCTTAGCTATTGCTC

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.377 in 152,086 control chromosomes in the GnomAD database, including 11,600 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.38 (11600 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.612

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.442 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: 0.377 AC: 57271 AN: 151968 Hom.: 11602 Cov.: 0

Gnomad AFR AF: 0.260

Gnomad AMI AF: 0.456

Gnomad AMR AF: 0.405

Gnomad ASJ AF: 0.522

Gnomad EAS AF: 0.122

Gnomad SAS AF: 0.396

Gnomad FIN AF: 0.402

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.377 AC: 57288 AN: 152086 Hom.: 11600 Cov.: 0 AF XY: 0.372 AC XY: 27678 AN XY: 74328

Gnomad4 AFR AF: 0.260

Gnomad4 AMR AF: 0.404

Gnomad4 ASJ AF: 0.522

Gnomad4 EAS AF: 0.122

Gnomad4 SAS AF: 0.396

Gnomad4 FIN AF: 0.402

Gnomad4 NFE AF: 0.446

Gnomad4 OTH AF: 0.415

Alfa AF: 0.404 Hom.: 1550

Bravo AF: 0.373

Asia WGS AF: 0.236 AC: 822 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11269962; hg19: chr7-128575797;