rs6575836

Positions:

• chr14-101212918-G-A

Variant summary

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

The variant allele was found at a frequency of 0.799 in 152,188 control chromosomes in the GnomAD database, including 48,878 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 0.80 (48878 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.852 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: 0.799 AC: 121553 AN: 152070 Hom.: 48832 Cov.: 33

Gnomad AFR AF: 0.860

Gnomad AMI AF: 0.842

Gnomad AMR AF: 0.764

Gnomad ASJ AF: 0.804

Gnomad EAS AF: 0.565

Gnomad SAS AF: 0.777

Gnomad FIN AF: 0.748

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.799 AC: 121664 AN: 152188 Hom.: 48878 Cov.: 33 AF XY: 0.795 AC XY: 59134 AN XY: 74398

Gnomad4 AFR AF: 0.860

Gnomad4 AMR AF: 0.764

Gnomad4 ASJ AF: 0.804

Gnomad4 EAS AF: 0.566

Gnomad4 SAS AF: 0.776

Gnomad4 FIN AF: 0.748

Gnomad4 NFE AF: 0.797

Gnomad4 OTH AF: 0.801

Alfa AF: 0.796 Hom.: 84978

Bravo AF: 0.802

Asia WGS AF: 0.705 AC: 2452 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.91
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6575836; hg19: chr14-101679255;