6-44671447-T-C

Variant names:

• chr6-44671447-T-C
• rs11755164

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 0.573 in 151,976 control chromosomes in the GnomAD database, including 25,821 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 0.57 (25821 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.516

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.883 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: 0.573 AC: 87050 AN: 151858 Hom.: 25795 Cov.: 31

Gnomad AFR AF: 0.450

Gnomad AMI AF: 0.579

Gnomad AMR AF: 0.709

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.904

Gnomad SAS AF: 0.585

Gnomad FIN AF: 0.605

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.583

Gnomad OTH AF: 0.601

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

GnomAD4 genome AF: 0.573 AC: 87125 AN: 151976 Hom.: 25821 Cov.: 31 AF XY: 0.578 AC XY: 42934 AN XY: 74276

Gnomad4 AFR AF: 0.450

Gnomad4 AMR AF: 0.709

Gnomad4 ASJ AF: 0.618

Gnomad4 EAS AF: 0.905

Gnomad4 SAS AF: 0.586

Gnomad4 FIN AF: 0.605

Gnomad4 NFE AF: 0.583

Gnomad4 OTH AF: 0.605

Alfa AF: 0.595 Hom.: 23622

Bravo AF: 0.577

Asia WGS AF: 0.720 AC: 2501 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.8
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11755164; hg19: chr6-44639184;